G99D (p.Gly99Asp) variant of USH1C (Harmonin)
G99D (p.Gly99Asp) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
G99D (p.Gly99Asp) variant details
- p.Gly99Asp
- cosmic curated COSV10452
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.86
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available