E74G (p.Glu74Gly) variant of USH2A (Usherin)
E74G (p.Glu74Gly) in USH2A (Usherin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
E74G (p.Glu74Gly) variant details
- p.Glu74Gly
- ExAC rs774419989
- TOPMed rs774419989
- gnomAD rs774419989
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.02
- AlphaMissense 0.10
- MetaLR 0.04
- MetaSVM -1.04
- CADD 9.34
- PolyPhen-2 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available