SAYSD1

Chr 6

SAYSVFN motif domain containing 1

Also known as: C6orf64

NCBI Gene: 55776ENSG00000112167UniProt: Q9NPB0OMIM: 621576

Enables UFM1-modified protein reader activity. Involved in protein quality control for misfolded or incompletely synthesized proteins and rescue of stalled cytosolic ribosome. Is active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.65
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.65LOEUF
pLI 0.000
Z-score 0.23
OE 0.91 (0.52–1.65)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.53Z-score
OE missense 1.15 (0.99–1.34)
118 obs / 102.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.91 (0.52–1.65)
0≤0.351.4
Missense OE?1.15 (0.99–1.34)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 7 / 7.7Missense obs/exp: 118 / 102.9Syn Z: 0.30

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SAYSD1 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients