H133Y (p.His133Tyr) variant of MYO7A (Unconventional myosin-VIIa)
H133Y (p.His133Tyr) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Rare genetic deafness; Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
H133Y (p.His133Tyr) variant details
- p.His133Tyr
- rs111033403
- ClinGen CA278660
- ClinVar RCV000036132
- ClinVar RCV001852746
- Pathogenic/Likely pathogenic
- Rare genetic deafness; Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.98
- CADD 25.20
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; Retinal dystrophy; not provided)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)