G45* (p.Gly45Ter) variant of CHM (P24386)
G45* (p.Gly45Ter) 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 0.75 / 1. The record also includes population frequency data and structural context.
G45* (p.Gly45Ter) variant details
- p.Gly45Ter
- rs1057520765
- ClinGen CA16608617
- ClinVar RCV000435190
- Ensembl rs1057520765
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.748
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available