N51H (p.Asn51His) variant of USH1C (Harmonin)
N51H (p.Asn51His) in USH1C (Harmonin) is a missense change. The record also includes experimental measurements and structural context.
N51H (p.Asn51His) variant details
- p.Asn51His
- Ensembl rs1850980698
- Missense
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.72