L25H (p.Leu25His) variant of CPT2 (P23786)
L25H (p.Leu25His) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L25H (p.Leu25His) variant details
- p.Leu25His
- gnomAD 1-53197017-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.35
- MetaLR 0.33
- MetaSVM -0.69
- CADD 22.20
- PolyPhen-2 0.46
- SIFT 0.36
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available