E22G (p.Glu22Gly) variant of USH1C (Harmonin)
E22G (p.Glu22Gly) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E22G (p.Glu22Gly) variant details
- p.Glu22Gly
- ExAC rs753180549
- gnomAD rs753180549
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.49
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.254