E22A (p.Glu22Ala) variant of USH1C (Harmonin)
E22A (p.Glu22Ala) 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.
E22A (p.Glu22Ala) variant details
- p.Glu22Ala
- ExAC rs753180549
- gnomAD rs753180549
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.49
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.254