A34T (p.Ala34Thr) variant of ETFA (P13804)
A34T (p.Ala34Thr) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- rs1282580037
- ClinGen CA393517954
- ClinVar RCV003038278
- gnomAD rs1282580037
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)