W5* (p.Trp5Ter) variant of PCCA (P05165)
W5* (p.Trp5Ter) in PCCA (P05165) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
W5* (p.Trp5Ter) variant details
- p.Trp5Ter
- rs11539554
- ClinGen CA255963365
- ClinVar RCV000674821
- gnomAD rs11539554
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 37.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)