V165A (p.Val165Ala) variant of ETFA (P13804)
V165A (p.Val165Ala) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia typ. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V165A (p.Val165Ala) variant details
- p.Val165Ala
- rs749455172
- ClinGen CA7673746
- ClinVar RCV001733357
- ClinVar RCV004571073
- Conflicting interpretations
- not specified; Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia typ
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.74
- CADD 28.30
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not specified; Multiple acyl-CoA dehydrogenase deficiency; Gluta)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)