R32L (p.Arg32Leu) variant of ACADVL (P49748)
R32L (p.Arg32Leu) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R32L (p.Arg32Leu) variant details
- p.Arg32Leu
- gnomAD 17-7220154-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.10
- CADD 10.50
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available