R32G (p.Arg32Gly) variant of PCCA (P05165)
R32G (p.Arg32Gly) 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.
R32G (p.Arg32Gly) variant details
- p.Arg32Gly
- gnomAD 13-100089214-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available