W47C (p.Trp47Cys) variant of MYO7A (Unconventional myosin-VIIa)
W47C (p.Trp47Cys) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
W47C (p.Trp47Cys) variant details
- p.Trp47Cys
- Ensembl rs397516285
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available