E74A (p.Glu74Ala) variant of USH2A (Usherin)
E74A (p.Glu74Ala) 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 0.28 / 1. The record also includes structural context.
E74A (p.Glu74Ala) variant details
- p.Glu74Ala
- rs774419989
- ClinGen CA344904479
- ClinVar RCV001230511
- ExAC rs774419989
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- AlphaMissense 0.10
- MetaLR 0.04
- MetaSVM -1.04
- PolyPhen-2 0.01
- SIFT 0.15
- MutPred 0.47
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available