R4L (p.Arg4Leu) variant of CPT2 (P23786)
R4L (p.Arg4Leu) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R4L (p.Arg4Leu) variant details
- p.Arg4Leu
- TOPMed rs1338278472
- gnomAD rs1338278472
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.43
- MetaLR 0.36
- MetaSVM -0.38
- CADD 22.70
- PolyPhen-2 0.38
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available