LDHAL6B

Chr 15

lactate dehydrogenase A like 6B

Also known as: LDH6B, LDHAL6, LDHL

NCBI Gene: 92483 ENSG00000171989 UniProt: Q9BYZ2 OMIM: 618928

Predicted to enable L-lactate dehydrogenase (NAD+) activity. Involved in lactate metabolic process. Located in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

Predicted to enable L-lactate dehydrogenase (NAD+) activity. Involved in lactate metabolic process. Located in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.46

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.46LOEUF

pLI 0.073

Z-score 0.97

OE 0.48 (0.20–1.46)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.09Z-score

OE missense 1.21 (1.09–1.34)

263 obs / 217.6 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.48 (0.20–1.46)

0≤0.351.4

Missense OE?1.21 (1.09–1.34)

0≤0.61.4

Synonymous OE?1.34

0≤1.21.6

LoF obs/exp: 2 / 4.1Missense obs/exp: 263 / 217.6Syn Z: -2.41

Background carrier burden — how many people carry a rare variant somewhere in LDHAL6B?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 70

559 rare PASS variants

Rare truncating (LoF)

1 in 860

64 rare PASS variants

Rare synonymous (reference)

1 in 250

224 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for LDHAL6B. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 120	1 in 1,300
South Asian	~43k	1 in 88	1 in 2,800
Remaining (unassigned)	~30k	1 in 62	1 in 1,200
European (Finnish)	~27k	1 in 180	1 in 4,500
Admixed American	~22k	1 in 62	1 in 1,700
African / African American	~21k	1 in 83	1 in 1,800
East Asian	~20k	1 in 87	1 in 2,300
Ashkenazi Jewish	~13k	1 in 290	1 in 1,300
Middle Eastern	~2,884	1 in 83	≈ 1 in 1,400

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓