A13V (p.Ala13Val) variant of PCCA (P05165)
A13V (p.Ala13Val) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- gnomAD 13-100089158-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 17.40
- PolyPhen-2 0.06
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available