R8C (p.Arg8Cys) variant of CPT2 (P23786)
R8C (p.Arg8Cys) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R8C (p.Arg8Cys) variant details
- p.Arg8Cys
- ExAC rs768829380
- TOPMed rs768829380
- gnomAD rs768829380
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.43
- MetaLR 0.49
- MetaSVM -0.00
- CADD 26.80
- PolyPhen-2 0.65
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available