D24N (p.Asp24Asn) variant of USH1C (Harmonin)
D24N (p.Asp24Asn) in USH1C (Harmonin) is a missense change. The record also includes experimental measurements and structural context.
D24N (p.Asp24Asn) variant details
- p.Asp24Asn
- cosmic curated COSV10452
- TOPMed rs1851070793
- Missense
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.298