R8S (p.Arg8Ser) variant of CPT2 (P23786)
R8S (p.Arg8Ser) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R8S (p.Arg8Ser) variant details
- p.Arg8Ser
- ExAC rs768829380
- TOPMed rs768829380
- gnomAD rs768829380
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.37
- MetaLR 0.39
- MetaSVM -0.29
- CADD 22.50
- PolyPhen-2 0.25
- SIFT 0.27
- Population evidence available
- Structural context available