R8H (p.Arg8His) variant of CPT2 (P23786)
R8H (p.Arg8His) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R8H (p.Arg8His) variant details
- p.Arg8His
- gnomAD 1-53196966-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.27
- MetaLR 0.41
- MetaSVM -0.45
- CADD 25.40
- PolyPhen-2 0.58
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available