P18R (p.Pro18Arg) variant of CPT2 (P23786)
P18R (p.Pro18Arg) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P18R (p.Pro18Arg) variant details
- p.Pro18Arg
- gnomAD 1-53196996-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.13
- MetaLR 0.31
- MetaSVM -0.84
- CADD 6.78
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the East Asian population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available