G15* (p.Gly15Ter) variant of PCCA (P05165)
G15* (p.Gly15Ter) in PCCA (P05165) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G15* (p.Gly15Ter) variant details
- p.Gly15Ter
- rs1593996636
- ClinGen CA388692660
- ClinVar RCV000790482
- Ensembl rs1593996636
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)