V2A (p.Val2Ala) variant of CPT2 (P23786)
V2A (p.Val2Ala) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
V2A (p.Val2Ala) variant details
- p.Val2Ala
- gnomAD 1-53196948-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.24
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available