A8S (p.Ala8Ser) variant of ACADVL (P49748)
A8S (p.Ala8Ser) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- Ensembl rs567176096
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- CADD 21.60
- Most common in the REMAINING population (allele frequency 4.4e-05)
- Structural context available