A36S (p.Ala36Ser) variant of ACADVL (P49748)
A36S (p.Ala36Ser) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A36S (p.Ala36Ser) variant details
- p.Ala36Ser
- rs749549400
- gnomAD 17-7217796-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- CADD 13.10
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available