DIABLO p.Ala95=
c.285G>A · rs144568281 · VCV1203215
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.272%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.031 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -4.2 | GERP -3.5 |
| Overall | ||
| CADD | 6.363 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.272%
South Asian · 248/91,080 alleles
Filtering AF
0.244%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.234%
Overall
0.0237%
383/1,614,060 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.272% | 367 |
| East Asian | 0.152% | 660 |
| Remaining individualsnot grpmax-eligible | 0.0336% | 2,976 |
| Middle Eastern | 0.033% | 3,031 |
| Finnishnot grpmax-eligible | 0.00937% | 10,668 |
| European (non-Finnish) | 0.00305% | 32,778 |
| African / African-American | 0.00267% | 37,516 |
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
- DIABLO
- Protein
- p.Ala95=
- Coding
- c.285G>A
- MANE Select
- NM_001371333
- dbSNP
- rs144568281
- Type
- single nucleotide variant
- Location
- chr12:122218296 (GRCh38)
- Gene constraint
- LOEUF 1.245 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.53 · 16 PDB
- Residue 95
- an α-helix
Similar variants
- DIABLO p.Arg10Cys Uncertain significance ★★ ⚠ same type
- DIABLO p.Ser9Leu Uncertain significance ★★ ⚠ same type
- DIABLO p.Tyr117His Uncertain significance ★★ ⚠ same type
- DIABLO c.183+63G>A Benign ★★ same type
- DIABLO c.184-70G>A Benign ★★ same type
- DIABLO c.316-101T>C Likely benign ★★ same type
- DIABLO c.316-258A>T Benign ★★ same type
- DIABLO c.316-8A>G 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/diablo-p-ala95 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown