R83S (p.Arg83Ser) variant of MYO7A (Unconventional myosin-VIIa)
R83S (p.Arg83Ser) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rare genetic deafness; 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.
R83S (p.Arg83Ser) variant details
- p.Arg83Ser
- rs781790246
- ClinGen CA381929241
- ClinVar RCV000679823
- ClinVar RCV000825401
- Likely pathogenic
- Rare genetic deafness; Usher syndrome type 1B
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.75
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Rare genetic deafness; Usher syndrome type 1B)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)