V2E (p.Val2Glu) variant of CPT2 (P23786)
V2E (p.Val2Glu) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
V2E (p.Val2Glu) variant details
- p.Val2Glu
- Ensembl rs1557711941
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.35
- MetaLR 0.36
- MetaSVM -0.63
- CADD 21.60
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available