W5C (p.Trp5Cys) variant of PCCA (P05165)
W5C (p.Trp5Cys) in PCCA (P05165) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
W5C (p.Trp5Cys) variant details
- p.Trp5Cys
- gnomAD rs11539554
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available