ASAP2 p.Asp434=
c.1302C>T · rs34052263 · VCV767783
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 6.5%, afr) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · C>G here scores Δ0.97 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -5.8 | GERP -4.4 |
| Overall | ||
| CADD | 1.765 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
6.5%
African / African-American · 4,861/74,734 alleles
Filtering AF
6.35%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 6.29%
Overall
0.354%
5,692/1,606,026 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 6.5% | 15 |
| Remaining individualsnot grpmax-eligible | 0.503% | 199 |
| Admixed American | 0.45% | 222 |
| Middle Eastern | 0.266% | 376 |
| Ashkenazi Jewishnot grpmax-eligible | 0.179% | 558 |
| South Asian | 0.0368% | 2,714 |
| European (non-Finnish) | 0.0128% | 7,788 |
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
- ASAP2
- Protein
- p.Asp434=
- Coding
- c.1302C>T
- MANE Select
- NM_003887
- dbSNP
- rs34052263
- Type
- single nucleotide variant
- Location
- chr2:9356320 (GRCh38)
- Gene constraint
- LOEUF 0.465 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 75.71
- Residue 434
- the arf-gap domain
Similar variants
- ASAP2 p.Ala592= Benign ★★ same type
- ASAP2 p.Asp45= Benign ★★ same type
- ASAP2 p.Pro868Leu Benign ★★ same type
- ASAP2 c.687-1G>T Uncertain significance ★ same type
- ASAP2 p.Ala1005Thr Uncertain significance ★ ⚠ same type
- ASAP2 p.Ala276Thr Uncertain significance ★ ⚠ same type
- ASAP2 p.Ala31Val Uncertain significance ★ ⚠ same type
- ASAP2 p.Ala441Val 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/asap2-p-asp434 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown