I28M (p.Ile28Met) variant of USH2A (Usherin)
I28M (p.Ile28Met) in USH2A (Usherin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
I28M (p.Ile28Met) variant details
- p.Ile28Met
- rs1270426964
- TOPMed rs1270426964
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- AlphaMissense 0.09
- MetaLR 0.04
- MetaSVM -1.03
- PolyPhen-2 0.78
- SIFT 0.03
- MutPred 0.31
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available