H11R (p.His11Arg) variant of USH1C (Harmonin)
H11R (p.His11Arg) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H11R (p.His11Arg) variant details
- p.His11Arg
- TOPMed rs1161954752
- gnomAD rs1161954752
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.16
- CADD 24.90
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.092