G30V (p.Gly30Val) variant of CPT2 (P23786)
G30V (p.Gly30Val) in CPT2 (P23786) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G30V (p.Gly30Val) variant details
- p.Gly30Val
- Ensembl rs1572378353
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.20
- MetaLR 0.30
- MetaSVM -0.82
- CADD 17.50
- PolyPhen-2 0.05
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available