D174A (p.Asp174Ala) variant of ETFA (P13804)
D174A (p.Asp174Ala) 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 0.31 / 1. The record also includes published literature and structural context.
D174A (p.Asp174Ala) variant details
- p.Asp174Ala
- rs1396125343
- ClinGen CA393513464
- ClinVar RCV001941259
- TOPMed rs1396125343
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.48
- MetaSVM -0.22
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)