R668H (p.Arg668His) variant of MYO7A (Unconventional myosin-VIIa)
R668H (p.Arg668His) 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 Usher syndrome type 1B; not provided; Autosomal dominant nonsyndromic hearing lo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R668H (p.Arg668His) variant details
- p.Arg668His
- rs368575149
- ClinGen CA224837120
- cosmic curated COSV68684
- ClinVar RCV001243218
- Pathogenic/Likely pathogenic
- Usher syndrome type 1B; not provided; Autosomal dominant nonsyndromic hearing lo
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.89
- AlphaMissense 0.99
- MetaLR 0.67
- MetaSVM 0.60
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Usher syndrome type 1B; not provided; Autosomal dominant nonsynd)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)