G19R (p.Gly19Arg) variant of CPT2 (P23786)
G19R (p.Gly19Arg) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- gnomAD 1-53196998-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.14
- MetaLR 0.29
- MetaSVM -0.87
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available