W20* (p.Trp20Ter) variant of PCCA (P05165)
W20* (p.Trp20Ter) in PCCA (P05165) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
W20* (p.Trp20Ter) variant details
- p.Trp20Ter
- gnomAD 13-100089179-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.837
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available