C67R (p.Cys67Arg) variant of USH2A (Usherin)
C67R (p.Cys67Arg) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
C67R (p.Cys67Arg) variant details
- p.Cys67Arg
- rs2102788868
- ClinGen CA344904586
- ClinVar RCV003890615
- Likely pathogenic
- Retinal dystrophy
- 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 (Retinal dystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available