P21A (p.Pro21Ala) variant of CPT2 (P23786)
P21A (p.Pro21Ala) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P21A (p.Pro21Ala) variant details
- p.Pro21Ala
- gnomAD 1-53197004-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.16
- MetaLR 0.31
- MetaSVM -0.78
- CADD 3.23
- PolyPhen-2 0.00
- SIFT 0.96
- Population evidence available
- Structural context available
- Literature evidence available