E18D (p.Glu18Asp) variant of USH2A (Usherin)
E18D (p.Glu18Asp) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
E18D (p.Glu18Asp) variant details
- p.Glu18Asp
- TOPMed rs1396916932
- gnomAD rs1396916932
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.09
- CADD 8.75
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available