R63Q (p.Arg63Gln) variant of USH1C (Harmonin)
R63Q (p.Arg63Gln) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive nonsyndromic hearing loss 18A; Usher syndrome type 1C; Usher. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R63Q (p.Arg63Gln) variant details
- p.Arg63Gln
- rs372497947
- ClinGen CA243367
- cosmic curated COSV99140
- ClinVar RCV000177238
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 18A; Usher syndrome type 1C; Usher
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.73
- CADD 28.90
- PolyPhen-2 0.86
- SIFT 0.01
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 18A; Usher syndrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.397
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)