SSTR5 p.Ser147=
c.441G>A · rs35659646 · VCV725688
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.69%, eas)
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 -3.7 |
| Overall | ||
| CADD | 2.094 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.69%
East Asian · 309/44,772 alleles
Filtering AF
0.627%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.602%
Overall
0.0247%
398/1,609,678 alleles · rare
exomes 362/1,457,344 · genomes 36/152,334 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.69% | 145 |
| Middle Eastern | 0.0496% | 2,017 |
| Admixed American | 0.0417% | 2,396 |
| South Asian | 0.0165% | 6,068 |
| Remaining individualsnot grpmax-eligible | 0.016% | 6,235 |
| African / African-American | 0.00533% | 18,753 |
| European (non-Finnish) | 0.00271% | 36,833 |
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.Ser147=
- Coding
- c.441G>A
- MANE Select
- NM_001172560
- dbSNP
- rs35659646
- Type
- single nucleotide variant
- Location
- chr16:1079309 (GRCh38)
- Gene constraint
- LOEUF 1.931 · pLI 0.12 (gnomAD)
- Structure
- AlphaFold pLDDT 81.91 · 7 PDB
- Residue 147
- a turn
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-ser147 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown