P2RY12 p.Pro167=
c.501G>A · rs368508157 · VCV3015312
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0294%, 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 -20 | GERP -5 |
| Overall | ||
| CADD | 0.056 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0294%
African / African-American · 22/74,900 alleles
Filtering AF
0.0199%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0167%
Overall
0.00211%
34/1,613,998 alleles · ultra-rare
exomes 21/1,461,846 · genomes 13/152,152 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0294% | 3,405 |
| Remaining individualsnot grpmax-eligible | 0.008% | 12,496 |
| Admixed American | 0.00167% | 59,988 |
| European (non-Finnish) | 0.000508% | 196,668 |
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
- P2RY12
- Protein
- p.Pro167=
- Coding
- c.501G>A
- MANE Select
- NM_022788
- dbSNP
- rs368508157
- Type
- single nucleotide variant
- Location
- chr3:151338345 (GRCh38)
- Gene constraint
- LOEUF 1.16 · pLI 0.08 (gnomAD)
- Structure
- AlphaFold pLDDT 85.11 · 5 PDB
- Residue 167
- an α-helix
Similar variants
- MED12L p.Arg1245Ter Pathogenic/Likely pathogenic ★★ same type
- P2RY12 p.Arg265Pro Pathogenic/Likely pathogenic ★★ ⚠ same type
- P2RY12 p.Arg265Trp Uncertain significance ★★ ⚠ same type
- P2RY12 p.Leu40Phe Uncertain significance ★★ ⚠ same type
- MED12L p.Thr1183Met Likely benign ★★ same type
- P2RY12 p.Phe182= Benign ★★ same type
- MED12L p.Asn1096Asp Uncertain significance ★ ⚠ same type
- MED12L p.Glu1276Asp 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/p2ry12-p-pro167 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown