C84Y (p.Cys84Tyr) variant of USH2A (Usherin)
C84Y (p.Cys84Tyr) in USH2A (Usherin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
C84Y (p.Cys84Tyr) variant details
- p.Cys84Tyr
- rs1247310031
- ClinGen CA344904369
- ClinVar RCV001297295
- Ensembl rs1247310031
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- AlphaMissense 0.90
- MetaLR 0.20
- MetaSVM -0.70
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.78
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available