S26R (p.Ser26Arg) variant of CPT2 (P23786)
S26R (p.Ser26Arg) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S26R (p.Ser26Arg) variant details
- p.Ser26Arg
- gnomAD 1-53197019-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.20
- MetaLR 0.31
- MetaSVM -0.59
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available