AAAS p.Val271=
c.813A>G · rs1200142947 · VCV2793729
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.005%, amr)
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 -3.5 | GERP -4.1 |
| Overall | ||
| CADD | 2.392 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.005%
Admixed American · 3/59,990 alleles
Filtering AF
0.00133%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000668%
Overall
0.00031%
5/1,613,612 alleles · very rare
exomes 4/1,461,590 · genomes 1/152,022 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.005% | 19,997 |
| East Asian | 0.00223% | 44,878 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,454 |
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
- AAAS
- Protein
- p.Val271=
- Coding
- c.813A>G
- MANE Select
- NM_015665
- dbSNP
- rs1200142947
- Type
- single nucleotide variant
- Location
- chr12:53309279 (GRCh38)
- Gene constraint
- LOEUF 0.921 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.45 · 2 PDB
- Residue 271
- a UniProt-annotated variant site (in aaas)
Similar variants
- AAAS c.1331+1G>A Pathogenic ★★ same type
- AAAS c.1331+1G>C Pathogenic/Likely pathogenic ★★ same type
- AAAS c.446+1G>A Pathogenic ★★ same type
- AAAS c.446+1G>T Pathogenic/Likely pathogenic ★★ same type
- AAAS c.810+1G>A Pathogenic/Likely pathogenic ★★ same type
- AAAS c.936-1G>C Pathogenic/Likely pathogenic ★★ same type
- AAAS p.Ala167Glu Pathogenic/Likely pathogenic ★★ same type
- AAAS p.Ala167Val Pathogenic ★★ 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/aaas-p-val271 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown