A7V (p.Ala7Val) variant of ACADVL (P49748)
A7V (p.Ala7Val) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- gnomAD 17-7217162-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 23.70
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available