D82V (p.Asp82Val) variant of ETFA (P13804)
D82V (p.Asp82Val) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
D82V (p.Asp82Val) variant details
- p.Asp82Val
- rs1439151256
- ClinGen CA393517240
- ClinVar RCV002620893
- gnomAD rs1439151256
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.25
- CADD 24.40
- PolyPhen-2 0.50
- SIFT 0.26
- 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 2.2e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)