W47* (p.Trp47Ter) variant of MYO7A (Unconventional myosin-VIIa)
W47* (p.Trp47Ter) in MYO7A (Unconventional myosin-VIIa) 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 0.68 / 1. The record also includes population frequency data and structural context.
W47* (p.Trp47Ter) variant details
- p.Trp47Ter
- rs397516285
- ClinGen CA278627
- cosmic curated COSV10657
- ClinVar RCV000036050
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available