A9D (p.Ala9Asp) variant of CPT2 (P23786)
A9D (p.Ala9Asp) 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.
A9D (p.Ala9Asp) variant details
- p.Ala9Asp
- gnomAD 1-53196969-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.28
- MetaLR 0.36
- MetaSVM -0.74
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available