SRRT p.Leu265=
c.795T>C · rs15624 · VCV1264019
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 81.8%, eas) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1.4 | GERP -4.5 |
| Overall | ||
| CADD | 1.179 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
81.8%
East Asian · 36,624/44,782 alleles
Filtering AF
81.1%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 80.8%
Overall
53.4%
860,441/1,612,616 alleles · common
exomes 781,183/1,461,018 · genomes 79,258/151,598 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 81.8% | 1 |
| Admixed American | 69% | 1 |
| South Asian | 58.9% | 2 |
| Middle Eastern | 58.6% | 2 |
| Amishnot grpmax-eligible | 58.1% | 2 |
| Ashkenazi Jewishnot grpmax-eligible | 57% | 2 |
| Remaining individualsnot grpmax-eligible | 53.9% | 2 |
| Finnishnot grpmax-eligible | 52% | 2 |
| European (non-Finnish) | 51.6% | 2 |
| African / African-American | 43.9% | 2 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- SRRT
- Protein
- p.Leu265=
- Coding
- c.795T>C
- MANE Select
- NM_015908
- dbSNP
- rs15624
- Type
- single nucleotide variant
- Location
- chr7:100884405 (GRCh38)
- Gene constraint
- LOEUF 0.404 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 66.61 · 6 PDB
- Residue 265
- an α-helix
Similar variants
- SRRT c.1042-18C>G Benign ★★ same type
- SRRT c.1042-7C>T Benign ★★ same type
- SRRT c.2556-9A>T Benign ★★ same type
- SRRT p.Arg518= Benign ★★ same type
- SRRT p.Glu205= Benign ★★ same type
- SRRT p.Leu157= Benign ★★ same type
- SRRT p.Ala190Val Uncertain significance ★ ⚠ same type
- SRRT p.Ala245Gly Uncertain significance ★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/srrt-p-leu265 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown