V2M (p.Val2Met) variant of CPT2 (P23786)
V2M (p.Val2Met) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V2M (p.Val2Met) variant details
- p.Val2Met
- gnomAD 1-53196947-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.20
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available