G163R (p.Gly163Arg) variant of MYO7A (Unconventional myosin-VIIa)
G163R (p.Gly163Arg) 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 type 1; Usher syndrome; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G163R (p.Gly163Arg) variant details
- p.Gly163Arg
- rs1472566324
- ClinGen CA381931767
- ClinVar RCV000668444
- ClinVar RCV001378983
- Pathogenic/Likely pathogenic
- Usher syndrome type 1; Usher syndrome; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.97
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Usher syndrome type 1; Usher syndrome; Retinal dystrophy)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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: Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. (PMID 10094549)