V72E (p.Val72Glu) variant of USH1C (Harmonin)
V72E (p.Val72Glu) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V72E (p.Val72Glu) variant details
- p.Val72Glu
- gnomAD rs1265464766
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.48
- CADD 28.40
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.759