S82C (p.Ser82Cys) variant of USH1C (Harmonin)
S82C (p.Ser82Cys) 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. 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.
S82C (p.Ser82Cys) variant details
- p.Ser82Cys
- rs769021971
- ClinGen CA10576847
- ClinVar RCV000215948
- ClinVar RCV000671029
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.42
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- USH1C PDZ domain domainome 1.0: score 0.159
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)