Y403C (p.Tyr403Cys) variant of MYO7A (Unconventional myosin-VIIa)
Y403C (p.Tyr403Cys) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Usher syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Y403C (p.Tyr403Cys) variant details
- p.Tyr403Cys
- rs797044511
- ClinGen CA278736
- ClinVar RCV000155424
- ClinVar RCV000594093
- Likely pathogenic
- Usher syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.94
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Usher syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)