ALDH2 p.Val348=
c.1044C>T · rs759981145 · VCV750288
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0152%, sas)
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>A here scores Δ0.30 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -8.4 | GERP -3.9 |
| Overall | ||
| CADD | 0.332 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0152%
South Asian · 13/85,422 alleles
Filtering AF
0.00897%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00712%
Overall
0.00102%
16/1,563,448 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0152% | 6,571 |
| African / African-American | 0.00273% | 36,642 |
| European (non-Finnish) | 8.66e-05% | 1,154,914 |
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
- ALDH2
- Protein
- p.Val348=
- Coding
- c.1044C>T
- MANE Select
- NM_000690
- dbSNP
- rs759981145
- Type
- single nucleotide variant
- Location
- chr12:111792743 (GRCh38)
- Gene constraint
- LOEUF 0.989 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 96.02 · 29 PDB
Similar variants
- ALDH2 p.Ile41Val Likely benign ★★ same type
- ALDH2 p.Pro92Thr Benign ★★ ⚠ same type
- ALDH2 p.Thr244Met Likely benign ★★ ⚠ same type
- ALDH2 p.Val304Met Benign ★★ same type
- ALDH2 p.Arg114Gln Uncertain significance ★ ⚠ same type
- ALDH2 p.Arg116Trp Uncertain significance ★ ⚠ same type
- ALDH2 p.Arg268Cys Uncertain significance ★ ⚠ same type
- ALDH2 p.Arg342Pro 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/aldh2-p-val348 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown