C67G (p.Cys67Gly) variant of USH2A (Usherin)
C67G (p.Cys67Gly) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Usher syndrome type 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
C67G (p.Cys67Gly) variant details
- p.Cys67Gly
- rs2102788868
- ClinGen CA344904584
- ClinVar RCV001787431
- Ensembl rs2102788868
- Likely pathogenic
- Usher syndrome type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- AlphaMissense 0.71
- MetaLR 0.20
- MetaSVM -0.70
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.81
- ClinVar: Likely pathogenic (Usher syndrome type 2A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Usher Syndrome Type II. (PMID 20301515)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)