G97D (p.Gly97Asp) variant of USH1C (Harmonin)
G97D (p.Gly97Asp) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G97D (p.Gly97Asp) variant details
- p.Gly97Asp
- TOPMed rs1850958048
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.51
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available