R55H (p.Arg55His) variant of USH1C (Harmonin)
R55H (p.Arg55His) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Usher syndrome type 1C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R55H (p.Arg55His) variant details
- p.Arg55His
- rs1042393529
- ClinGen CA218465335
- cosmic curated COSV50046
- ClinVar RCV000614227
- Uncertain significance
- not specified; Usher syndrome type 1C
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.44
- CADD 28.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Usher syndrome type 1C)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- 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)