R853C (p.Arg853Cys) variant of MYO7A (Unconventional myosin-VIIa)
R853C (p.Arg853Cys) 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 not provided; Usher syndrome type 1; Autosomal dominant nonsyndromic hearing los. 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.
R853C (p.Arg853Cys) variant details
- p.Arg853Cys
- rs2135473615
- ClinGen CA381942010
- ClinVar RCV001808253
- ClinVar RCV002541470
- Pathogenic/Likely pathogenic
- not provided; Usher syndrome type 1; Autosomal dominant nonsyndromic hearing los
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.80
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Usher syndrome type 1; Autosomal dominant nonsyndr)
- EBI: Pathogenic (in DFNA11)
- UniProt: Pathogenic (in DFNA11)
- Population evidence available
- Structural context available
- Cited in: Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11). (PMID 15300860)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)