R241C (p.Arg241Cys) variant of MYO7A (Unconventional myosin-VIIa)
R241C (p.Arg241Cys) 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; not provided; Usher syndrome type 1B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R241C (p.Arg241Cys) variant details
- p.Arg241Cys
- rs782166819
- ClinGen CA6197223
- cosmic curated COSV10824
- ClinVar RCV000505169
- Pathogenic
- Usher syndrome; not provided; Usher syndrome type 1B
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.90
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Usher syndrome; not provided; Usher syndrome type 1B)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. (PMID 10930322)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)