A36V (p.Ala36Val) variant of ACADVL (P49748)
A36V (p.Ala36Val) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Very long chain acyl-CoA dehydrogenase de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A36V (p.Ala36Val) variant details
- p.Ala36Val
- rs1165915680
- ClinGen CA397722104
- ClinVar RCV001200676
- ClinVar RCV004792785
- Uncertain significance
- Inborn genetic diseases; not provided; Very long chain acyl-CoA dehydrogenase de
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.39
- CADD 20.20
- PolyPhen-2 0.06
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Very long chain acyl-CoA)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.6e-06)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)