W75S (p.Trp75Ser) variant of CHM (P24386)
W75S (p.Trp75Ser) in CHM (P24386) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and structural context.
W75S (p.Trp75Ser) variant details
- p.Trp75Ser
- Ensembl rs1931440274
- Pathogenic
- Missense
- MetaLR 0.32
- MetaSVM -0.37
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available