E107A (p.Glu107Ala) variant of USH1C (Harmonin)
E107A (p.Glu107Ala) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E107A (p.Glu107Ala) variant details
- p.Glu107Ala
- ExAC rs765184158
- gnomAD rs765184158
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.59
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available