E87K (p.Glu87Lys) variant of USH1C (Harmonin)
E87K (p.Glu87Lys) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E87K (p.Glu87Lys) variant details
- p.Glu87Lys
- TOPMed rs1335710937
- gnomAD rs1335710937
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.31
- CADD 29.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.0684