SSTR2 p.Ile87=
c.261C>T · VCV4872291
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0186%, nfe)
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 -7 | GERP -7.5 |
| Overall | ||
| CADD | 3.085 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0186%
European (non-Finnish) · 220/1,180,054 alleles
Filtering AF
0.0166%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0158%
Overall
0.0154%
249/1,614,286 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0186% | 5,364 |
| Admixed American | 0.0133% | 7,504 |
| Remaining individualsnot grpmax-eligible | 0.0128% | 7,814 |
| South Asian | 0.00988% | 10,121 |
| Finnishnot grpmax-eligible | 0.00312% | 32,024 |
| East Asian | 0.00223% | 44,890 |
| African / African-American | 0.00133% | 75,078 |
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
- SSTR2
- Protein
- p.Ile87=
- Coding
- c.261C>T
- MANE Select
- NM_001050
- Type
- single nucleotide variant
- Location
- chr17:73169580 (GRCh38)
- Gene constraint
- LOEUF 0.756 · pLI 0.14 (gnomAD)
- Structure
- AlphaFold pLDDT 81.75 · 17 PDB
- Residue 87
- an α-helix
Similar variants
- SSTR2 p.Ile87Val Uncertain significance ★ ⚠ same residue
- SSTR2 p.Ala181Val Uncertain significance ★ ⚠ same type
- SSTR2 p.Arg157Gln Uncertain significance ★ ⚠ same type
- SSTR2 p.Arg184Gln Uncertain significance ★ ⚠ same type
- SSTR2 p.Arg340Gln Uncertain significance ★ ⚠ same type
- SSTR2 p.Asn22Ser Uncertain significance ★ ⚠ same type
- SSTR2 p.Asn318Ser Uncertain significance ★ ⚠ same type
- SSTR2 p.Asn325Lys 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/sstr2-p-ile87 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown