R10Q (p.Arg10Gln) variant of USH1C (Harmonin)
R10Q (p.Arg10Gln) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R10Q (p.Arg10Gln) variant details
- p.Arg10Gln
- TOPMed rs1457882210
- gnomAD rs1457882210
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.07
- CADD 25.20
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.81