A8T (p.Ala8Thr) variant of ACADVL (P49748)
A8T (p.Ala8Thr) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- rs1356681613
- gnomAD 17-7217167-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 22.40
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available