D75E (p.Asp75Glu) variant of USH1C (Harmonin)
D75E (p.Asp75Glu) in USH1C (Harmonin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D75E (p.Asp75Glu) variant details
- p.Asp75Glu
- 1000Genomes rs111033279
- ESP rs111033279
- ExAC rs111033279
- TOPMed rs111033279
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.20
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.02
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.036