H70Y (p.His70Tyr) variant of USH1C (Harmonin)
H70Y (p.His70Tyr) in USH1C (Harmonin) is a missense change. The record also includes experimental measurements and structural context.
H70Y (p.His70Tyr) variant details
- p.His70Tyr
- ExAC rs753527535
- gnomAD rs753527535
- Missense
- Structural context available
- USH1C PDZ domain domainome 1.0: score 0.249