R55C (p.Arg55Cys) variant of USH1C (Harmonin)
R55C (p.Arg55Cys) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R55C (p.Arg55Cys) variant details
- p.Arg55Cys
- rs117171411
- ClinGen CA5905150
- ClinVar RCV001365640
- ClinVar RCV001826045
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.48
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -1.02
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)