ETFA p.Ala176=
c.528A>G · VCV4067436
Uncertain significance
No assertion criteria
Classification
Uncertain significance
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Glutaric acidemia type 2A
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 -0.32 | GERP -3, phastCons 0.016 |
| Overall | ||
| CADD | 9.046 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ETFA
- Protein
- p.Ala176=
- Coding
- c.528A>G
- MANE Select
- NM_000126
- Type
- single nucleotide variant
- Location
- chr15:76286405 (GRCh38)
- Gene constraint
- LOEUF 1.166 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.00 · 4 PDB
- Residue 176
- the 'domain i' region; an α-helix
Disease context
Glutaric acidemia type 2A
Similar variants
- ETFA p.Arg122Lys Likely pathogenic ★★ same condition
- ETFA p.Arg18Ter Pathogenic/Likely pathogenic ★★ same condition
- ETFA p.Arg209Ter Pathogenic/Likely pathogenic ★★ same condition
- ETFA p.Arg223Ter Pathogenic/Likely pathogenic ★★ same condition
- ETFA p.Gln65Ter Likely pathogenic ★★ same condition
- ETFA p.Gly116Arg Likely pathogenic ★★ same condition
- ETFA p.Met1Ile Pathogenic/Likely pathogenic ★★ same condition
- ETFA p.Met1Val Pathogenic ★★ same condition
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/etfa-p-ala176 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown