W75* (p.Trp75Ter) variant of CHM (P24386)
W75* (p.Trp75Ter) 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 0.43 / 1. The record also includes published literature and structural context.
W75* (p.Trp75Ter) variant details
- p.Trp75Ter
- rs1931440274
- ClinGen CA413788098
- ClinVar RCV001386911
- ClinVar RCV005002013
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.427
- AlphaMissense 0.31
- MetaLR 0.34
- MetaSVM -0.38
- PolyPhen-2 0.55
- SIFT 0.04
- EVE 0.28
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)