R1873Q (p.Arg1873Gln) variant of MYO7A (Unconventional myosin-VIIa)
R1873Q (p.Arg1873Gln) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R1873Q (p.Arg1873Gln) variant details
- p.Arg1873Gln
- rs397516322
- ClinGen CA278687
- ClinVar RCV000036197
- ClinVar RCV000594226
- Pathogenic
- Usher syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Usher syndrome)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)