H70Q (p.His70Gln) variant of USH1C (Harmonin)
H70Q (p.His70Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H70Q (p.His70Gln) variant details
- p.His70Gln
- rs1256576403
- ClinGen CA379797978
- ClinVar RCV003175320
- TOPMed rs1256576403
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.19
- CADD 24.90
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- USH1C PDZ domain domainome 1.0: score 0.249
- 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)