R1873W (p.Arg1873Trp) variant of MYO7A (Unconventional myosin-VIIa)
R1873W (p.Arg1873Trp) 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; Rare genetic deafness; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R1873W (p.Arg1873Trp) variant details
- p.Arg1873Trp
- rs397516321
- ClinGen CA278686
- ClinVar RCV000036196
- ClinVar RCV000668897
- Pathogenic/Likely pathogenic
- Usher syndrome; Rare genetic deafness; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.89
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Usher syndrome; Rare genetic deafness; not provided)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and… (PMID 16679490)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)