I66S (p.Ile66Ser) variant of USH1C (Harmonin)
I66S (p.Ile66Ser) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I66S (p.Ile66Ser) variant details
- p.Ile66Ser
- ESP rs145040342
- ExAC rs145040342
- TOPMed rs145040342
- gnomAD rs145040342
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.47
- CADD 29.50
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.327