W11* (p.Trp11Ter) variant of MYO7A (Unconventional myosin-VIIa)
W11* (p.Trp11Ter) in MYO7A (Unconventional myosin-VIIa) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
W11* (p.Trp11Ter) variant details
- p.Trp11Ter
- rs1307924861
- ClinGen CA381947513
- ClinVar RCV001264284
- TOPMed rs1307924861
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.872
- CADD 43.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)