G44* (p.Gly44Ter) variant of CHM (P24386)
G44* (p.Gly44Ter) 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 0.76 / 1. The record also includes population frequency data and structural context.
G44* (p.Gly44Ter) variant details
- p.Gly44Ter
- rs886041175
- ClinGen CA10603742
- ClinVar RCV000259262
- ClinVar RCV003909900
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.755
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available