SSTR1 p.Val136=
c.408G>A · rs10130808 · VCV787718
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.78%, afr)
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 10 | GERP 1, phastCons 1 |
| Overall | ||
| CADD | 13.6 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.78%
African / African-American · 1,335/75,056 alleles
Filtering AF
1.7%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.67%
Overall
0.129%
2,074/1,613,946 alleles · low-frequency
exomes 1,288/1,461,678 · genomes 786/152,268 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.78% | 56 |
| Middle Eastern | 0.544% | 184 |
| Remaining individualsnot grpmax-eligible | 0.226% | 443 |
| Admixed American | 0.208% | 480 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0574% | 1,742 |
| European (non-Finnish) | 0.0353% | 2,837 |
| South Asian | 0.00768% | 13,013 |
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
- SSTR1
- Protein
- p.Val136=
- Coding
- c.408G>A
- MANE Select
- NM_001049
- dbSNP
- rs10130808
- Type
- single nucleotide variant
- Location
- chr14:38209797 (GRCh38)
- Gene constraint
- LOEUF 0.808 · pLI 0.08 (gnomAD)
- Structure
- AlphaFold pLDDT 79.74 · 4 PDB
- Residue 136
- an α-helix
Similar variants
- SSTR1 p.Ala297Val Uncertain significance ★ ⚠ same type
- SSTR1 p.Ala357Gly Uncertain significance ★ ⚠ same type
- SSTR1 p.Arg264Cys Uncertain significance ★ ⚠ same type
- SSTR1 p.Arg264Gly Uncertain significance ★ ⚠ same type
- SSTR1 p.Arg336Ser Uncertain significance ★ ⚠ same type
- SSTR1 p.Arg380His Uncertain significance ★ ⚠ same type
- SSTR1 p.Arg380Pro Uncertain significance ★ ⚠ same type
- SSTR1 p.Arg387Gly 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/sstr1-p-val136 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown