A8A (p.Ala8Ala) variant of ACADVL (P49748)
A8A (p.Ala8Ala) in ACADVL (P49748) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A8A (p.Ala8Ala) variant details
- p.Ala8Ala
- rs1210786746
- gnomAD 17-7217169-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 13.80
- Most common in the South Asian population (allele frequency 7.4e-05)
- Structural context available
- Literature evidence available