W20C (p.Trp20Cys) variant of PCCA (P05165)
W20C (p.Trp20Cys) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
W20C (p.Trp20Cys) variant details
- p.Trp20Cys
- gnomAD 13-100089180-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 21.60
- PolyPhen-2 0.05
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available