R5L (p.Arg5Leu) variant of ACADVL (P49748)
R5L (p.Arg5Leu) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- cosmic curated COSV10026
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.35
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available