C717G (p.Cys717Gly) variant of USH2A (Usherin)
C717G (p.Cys717Gly) in USH2A (Usherin) 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 2A. 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.
C717G (p.Cys717Gly) variant details
- p.Cys717Gly
- rs1304016981
- ClinGen CA344866071
- ClinVar RCV002651418
- ClinVar RCV004587448
- Pathogenic/Likely pathogenic
- not provided; Usher syndrome; Usher syndrome type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.96
- AlphaMissense 0.94
- MetaLR 0.93
- MetaSVM 1.00
- CADD 27.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Usher syndrome; Usher syndrome type 2A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Usher Syndrome Type II. (PMID 20301515)