Q63* (p.Gln63Ter) variant of CHM (P24386)
Q63* (p.Gln63Ter) in CHM (P24386) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Q63* (p.Gln63Ter) variant details
- p.Gln63Ter
- rs1931625420
- ClinGen CA413788234
- cosmic curated COSV62565
- ClinVar RCV002204557
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)