A15E (p.Ala15Glu) variant of CPT2 (P23786)
A15E (p.Ala15Glu) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A15E (p.Ala15Glu) variant details
- p.Ala15Glu
- gnomAD 1-53196987-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.27
- MetaLR 0.37
- MetaSVM -0.70
- CADD 11.00
- PolyPhen-2 0.04
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available