CRYBG1

Chr 6

crystallin beta-gamma domain containing 1

Also known as: AIM1, ST4

Predicted to enable carbohydrate binding activity. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.01
LOEUF
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.01LOEUF
pLI 0.000
Z-score 1.50
OE 0.81 (0.651.01)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.06Z-score
OE missense 1.01 (0.951.06)
929 obs / 924.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.81 (0.651.01)
00.351.4
Missense OE?1.01 (0.951.06)
00.61.4
Synonymous OE?1.06
01.21.6
LoF obs/exp: 58 / 71.7Missense obs/exp: 929 / 924.2Syn Z: -0.91

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CRYBG1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →