R1883W (p.Arg1883Trp) variant of MYO7A (Unconventional myosin-VIIa)
R1883W (p.Arg1883Trp) 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; Usher syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R1883W (p.Arg1883Trp) variant details
- p.Arg1883Trp
- rs866352637
- ClinGen CA224854331
- ClinVar RCV001557052
- ClinVar RCV001827468
- Pathogenic/Likely pathogenic
- not provided; Usher syndrome; Usher syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.90
- CADD 29.00
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Usher syndrome; Usher syndrome type 1)
- 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: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)