Y3143C (p.Tyr3143Cys) variant of USH2A (Usherin)
Y3143C (p.Tyr3143Cys) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Usher syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Y3143C (p.Tyr3143Cys) variant details
- p.Tyr3143Cys
- rs1662881745
- ClinGen CA344825192
- ClinVar RCV001883417
- ClinVar RCV005923942
- Pathogenic/Likely pathogenic
- Usher syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.84
- CADD 25.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Usher syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available