R32W (p.Arg32Trp) variant of PCCA (P05165)
R32W (p.Arg32Trp) 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.
R32W (p.Arg32Trp) variant details
- p.Arg32Trp
- gnomAD 13-100089214-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available