R80G (p.Arg80Gly) variant of USH1C (Harmonin)
R80G (p.Arg80Gly) 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; Inborn genetic diseases; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R80G (p.Arg80Gly) variant details
- p.Arg80Gly
- rs774005703
- ClinGen CA218465227
- ClinVar RCV000613861
- ClinVar RCV001346255
- Uncertain significance
- not provided; Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.09
- CADD 24.90
- PolyPhen-2 0.33
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.678
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)