C442Y (p.Cys442Tyr) variant of MYO6 (Unconventional myosin-VI)
C442Y (p.Cys442Tyr) in MYO6 (Unconventional myosin-VI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant nonsyndromic hearing loss 22. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature.
C442Y (p.Cys442Tyr) variant details
- p.Cys442Tyr
- UniProt VAR 012110
- Pathogenic
- Autosomal dominant nonsyndromic hearing loss 22
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- ESM-1b 1.00
- AlphaMissense 0.91
- ClinVar: Pathogenic (Autosomal dominant nonsyndromic hearing loss 22)
- EBI: Pathogenic (in DFNA22)
- UniProt: Pathogenic (in DFNA22)
- Cited in: MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal… (PMID 11468689)