G13V (p.Gly13Val) variant of CPT2 (P23786)
G13V (p.Gly13Val) 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.
G13V (p.Gly13Val) variant details
- p.Gly13Val
- gnomAD 1-53196981-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.27
- MetaLR 0.40
- MetaSVM -0.81
- CADD 9.21
- PolyPhen-2 0.00
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available