R4S (p.Arg4Ser) variant of CPT2 (P23786)
R4S (p.Arg4Ser) 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.
R4S (p.Arg4Ser) variant details
- p.Arg4Ser
- gnomAD 1-53196953-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.39
- MetaLR 0.31
- MetaSVM -0.59
- CADD 18.90
- PolyPhen-2 0.30
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available