E73Q (p.Glu73Gln) variant of USH1C (Harmonin)
E73Q (p.Glu73Gln) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E73Q (p.Glu73Gln) variant details
- p.Glu73Gln
- TOPMed rs1182093939
- gnomAD rs1182093939
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.07
- CADD 24.70
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available