A27D (p.Ala27Asp) variant of CPT2 (P23786)
A27D (p.Ala27Asp) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A27D (p.Ala27Asp) variant details
- p.Ala27Asp
- gnomAD 1-53197023-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.41
- MetaLR 0.31
- MetaSVM -0.52
- CADD 17.00
- PolyPhen-2 0.05
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available