R1883Q (p.Arg1883Gln) variant of MYO7A (Unconventional myosin-VIIa)
R1883Q (p.Arg1883Gln) 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 Rare genetic deafness; Usher syndrome; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R1883Q (p.Arg1883Gln) variant details
- p.Arg1883Gln
- rs111033215
- ClinGen CA278689
- cosmic curated COSV10824
- ClinVar RCV000036199
- Pathogenic/Likely pathogenic
- Rare genetic deafness; Usher syndrome; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 0.54
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; Usher syndrome; Retinal dystrophy)
- 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: Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. (PMID 15660226)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)