C84W (p.Cys84Trp) variant of USH2A (Usherin)
C84W (p.Cys84Trp) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
C84W (p.Cys84Trp) variant details
- p.Cys84Trp
- rs2039687530
- ClinGen CA344904366
- ClinVar RCV003239164
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available