R12L (p.Arg12Leu) variant of ACADVL (P49748)
R12L (p.Arg12Leu) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R12L (p.Arg12Leu) variant details
- p.Arg12Leu
- gnomAD rs1198265143
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.36
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available