SSTR5 p.Ser134=
c.402C>T · rs34654948 · VCV790162
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.54%, 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 -4.6 | GERP -3.7 |
| Overall | ||
| CADD | 8.119 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.54%
African / African-American · 1,907/75,054 alleles
Filtering AF
2.45%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.41%
Overall
0.158%
2,544/1,612,170 alleles · low-frequency
exomes 1,497/1,459,824 · genomes 1,047/152,346 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.54% | 39 |
| Middle Eastern | 0.247% | 404 |
| Remaining individualsnot grpmax-eligible | 0.215% | 466 |
| Admixed American | 0.133% | 750 |
| European (non-Finnish) | 0.0343% | 2,913 |
| South Asian | 0.0022% | 45,536 |
| Finnishnot grpmax-eligible | 0.0016% | 62,390 |
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
- SSTR5
- Protein
- p.Ser134=
- Coding
- c.402C>T
- MANE Select
- NM_001172560
- dbSNP
- rs34654948
- Type
- single nucleotide variant
- Location
- chr16:1079270 (GRCh38)
- Gene constraint
- LOEUF 1.931 · pLI 0.12 (gnomAD)
- Structure
- AlphaFold pLDDT 81.91 · 7 PDB
- Residue 134
- an α-helix
Similar variants
- SSTR5 p.Thr98Met Uncertain significance ★★ ⚠ same type
- SSTR5 p.Ala161= Benign ★★ same type
- SSTR5 p.Ala231= Benign/Likely benign ★★ same type
- SSTR5 p.Arg240Trp Benign/Likely benign ★★ same type
- SSTR5 p.Leu219= Benign ★★ same type
- SSTR5 p.Leu48Met Benign ★★ same type
- SSTR5 p.Phe107= Benign ★★ same type
- SSTR5 p.Pro335Leu Benign ★★ 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/sstr5-p-ser134 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown