A8V (p.Ala8Val) variant of ACADVL (P49748)
A8V (p.Ala8Val) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- rs2070956910
- gnomAD 17-7217168-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 15.80
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00016)
- Structural context available
- Literature evidence available