A13D (p.Ala13Asp) variant of PCCA (P05165)
A13D (p.Ala13Asp) in PCCA (P05165) 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.
A13D (p.Ala13Asp) variant details
- p.Ala13Asp
- gnomAD 13-100089158-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.37
- ESM-1b 0.99
- AlphaMissense 0.19
- CADD 17.50
- PolyPhen-2 0.16
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available