R23K (p.Arg23Lys) variant of ACADVL (P49748)
R23K (p.Arg23Lys) in ACADVL (P49748) is a missense 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.
R23K (p.Arg23Lys) variant details
- p.Arg23Lys
- rs1287359264
- gnomAD 17-7217767-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- CADD 7.19
- Most common in the Latino/Admixed American population (allele frequency 8.4e-05)
- Structural context available
- Literature evidence available