Y42* (p.Tyr42Ter) variant of CHM (P24386)
Y42* (p.Tyr42Ter) 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 0.41 / 1. The record also includes population frequency data and structural context.
Y42* (p.Tyr42Ter) variant details
- p.Tyr42Ter
- rs1931628708
- ClinGen CA413788374
- ClinVar RCV003568023
- ClinGen CA413788373
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.8e-06)
- Structural context available