G19V (p.Gly19Val) variant of CPT2 (P23786)
G19V (p.Gly19Val) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G19V (p.Gly19Val) variant details
- p.Gly19Val
- gnomAD 1-53196999-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.13
- MetaLR 0.35
- MetaSVM -0.71
- CADD 16.30
- PolyPhen-2 0.02
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available