R4H (p.Arg4His) variant of CPT2 (P23786)
R4H (p.Arg4His) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R4H (p.Arg4His) variant details
- p.Arg4His
- gnomAD 1-53196954-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.33
- MetaLR 0.48
- MetaSVM -0.35
- CADD 24.00
- PolyPhen-2 0.82
- SIFT 0.14
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available
- Literature evidence available