SSTR5 p.Cys237=
c.711C>T · rs147160220 · VCV3058147
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.02%, afr)
Conditions
1
SSTR5-related disorder
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 0.098 | GERP -0.78, phastCons 0.002 |
| Overall | ||
| CADD | 6.851 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.02%
African / African-American · 15/74,996 alleles
Filtering AF
0.0123%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00988%
Overall
0.00199%
32/1,611,030 alleles · ultra-rare
exomes 21/1,458,700 · genomes 11/152,330 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.02% | 5,000 |
| Middle Eastern | 0.0165% | 6,060 |
| Remaining individualsnot grpmax-eligible | 0.00321% | 31,183 |
| Admixed American | 0.00167% | 59,882 |
| European (non-Finnish) | 0.0011% | 90,677 |
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.Cys237=
- Coding
- c.711C>T
- MANE Select
- NM_001172560
- dbSNP
- rs147160220
- Type
- single nucleotide variant
- Location
- chr16:1079579 (GRCh38)
- Gene constraint
- LOEUF 1.931 · pLI 0.12 (gnomAD)
- Structure
- AlphaFold pLDDT 81.91 · 7 PDB
Disease context
SSTR5-related disorder
Similar variants
- SSTR5 p.Ala212= Benign same condition
- SSTR5 p.Ala52= Benign same condition
- SSTR5 p.Gly23= Likely benign same condition
- 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
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-cys237 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown