R55S (p.Arg55Ser) variant of USH1C (Harmonin)
R55S (p.Arg55Ser) in USH1C (Harmonin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R55S (p.Arg55Ser) variant details
- p.Arg55Ser
- 1000Genomes rs117171411
- ESP rs117171411
- ExAC rs117171411
- TOPMed rs117171411
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.27
- CADD 24.90
- PolyPhen-2 0.68
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -1.02