A26K (p.Ala26Lys) variant of ACADVL (P49748)
A26K (p.Ala26Lys) in ACADVL (P49748) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A26K (p.Ala26Lys) variant details
- p.Ala26Lys
- gnomAD 17-7217748-G-GAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 21.80
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available