ALDH8A1 p.Ser243=
c.729C>T · rs114000920 · VCV716950
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.94%, 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 -0.34 | GERP -3.1, phastCons 0.001 |
| Overall | ||
| CADD | 1.166 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.94%
African / African-American · 2,210/75,060 alleles
Filtering AF
2.84%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.8%
Overall
0.162%
2,621/1,614,198 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.94% | 34 |
| Remaining individualsnot grpmax-eligible | 0.264% | 379 |
| Middle Eastern | 0.264% | 379 |
| Admixed American | 0.213% | 469 |
| Finnishnot grpmax-eligible | 0.0219% | 4,573 |
| South Asian | 0.00878% | 11,386 |
| European (non-Finnish) | 0.00669% | 14,937 |
| East Asian | 0.00223% | 44,884 |
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
- ALDH8A1
- Protein
- p.Ser243=
- Coding
- c.729C>T
- MANE Select
- NM_022568
- dbSNP
- rs114000920
- Type
- single nucleotide variant
- Location
- chr6:134932896 (GRCh38)
- Gene constraint
- LOEUF 1.113 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 97.52
Similar variants
- ALDH8A1 p.Ala2Ser Uncertain significance ★ ⚠ same type
- ALDH8A1 p.Ala50Thr Uncertain significance ★ ⚠ same type
- ALDH8A1 p.Ala54Thr Uncertain significance ★ ⚠ same type
- ALDH8A1 p.Ala90Val Uncertain significance ★ ⚠ same type
- ALDH8A1 p.Arg213Met Uncertain significance ★ ⚠ same type
- ALDH8A1 p.Arg238Trp Uncertain significance ★ ⚠ same type
- ALDH8A1 p.Arg312Ser Uncertain significance ★ ⚠ same type
- ALDH8A1 p.Arg433Gln 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/aldh8a1-p-ser243 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown