R668C (p.Arg668Cys) variant of MYO7A (Unconventional myosin-VIIa)
R668C (p.Arg668Cys) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Usher syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R668C (p.Arg668Cys) variant details
- p.Arg668Cys
- rs397516292
- ClinGen CA132231
- ClinVar RCV000036072
- ClinVar RCV000489211
- Pathogenic
- Usher syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.79
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Usher syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)