H94Q (p.His94Gln) variant of USH2A (Usherin)
H94Q (p.His94Gln) in USH2A (Usherin) is a missense change. Clinical records from ClinVar 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 0.06 / 1. The record also includes population frequency data and structural context.
H94Q (p.His94Gln) variant details
- p.His94Gln
- TOPMed rs1231616703
- gnomAD rs1231616703
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0586
- REVEL 0.03
- CADD 5.91
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available