R80Q (p.Arg80Gln) variant of USH1C (Harmonin)
R80Q (p.Arg80Gln) 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 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R80Q (p.Arg80Gln) variant details
- p.Arg80Gln
- rs148597739
- ClinGen CA5905133
- ClinVar RCV001302460
- ClinVar RCV001835453
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.10
- CADD 24.70
- PolyPhen-2 0.13
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.678
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)