PML p.Pro761=
c.2283G>A · rs151129618 · VCV779897
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.62%, 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 -8.5 | GERP -4.1 |
| Overall | ||
| CADD | 0.314 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.62%
African / African-American · 465/75,052 alleles
Filtering AF
0.573%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.555%
Overall
0.0323%
519/1,605,674 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.62% | 161 |
| Remaining individualsnot grpmax-eligible | 0.024% | 4,163 |
| Admixed American | 0.00833% | 12,001 |
| European (non-Finnish) | 0.0028% | 35,754 |
| South Asian | 0.0011% | 91,078 |
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
- PML
- Protein
- p.Pro761=
- Coding
- c.2283G>A
- MANE Select
- NM_033238
- dbSNP
- rs151129618
- Type
- single nucleotide variant
- Location
- chr15:74044642 (GRCh38)
- Gene constraint
- LOEUF 0.613 · pLI 0.02 (gnomAD)
- Structure
- AlphaFold pLDDT 71.17 · 20 PDB
Similar variants
- PML p.Pro761Ala Uncertain significance ★ ⚠ same residue
- PML p.Pro761Leu Uncertain significance ★ ⚠ same residue
- PML c.1710+1245A>G Benign ★★ same type
- PML c.1710+1270G>T Benign ★★ same type
- PML c.1710+1705A>G Benign ★★ same type
- PML c.1710+813G>A Benign ★★ same type
- PML p.Ala675= Benign ★★ same type
- PML p.Pro791= Benign/Likely 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/pml-p-pro761 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown