R92H (p.Arg92His) variant of USH1C (Harmonin)
R92H (p.Arg92His) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R92H (p.Arg92His) variant details
- p.Arg92His
- rs147954324
- ClinGen CA5905108
- cosmic curated COSV50024
- ClinVar RCV000349369
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.43
- AlphaMissense 0.46
- MetaLR 0.06
- MetaSVM -1.06
- CADD 28.80
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- 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)