I51F (p.Ile51Phe) variant of USH2A (Usherin)
I51F (p.Ile51Phe) 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 0.31 / 1. The record also includes structural context.
I51F (p.Ile51Phe) variant details
- p.Ile51Phe
- rs886043442
- ClinGen CA344904800
- ClinVar RCV001073546
- TOPMed rs886043442
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- AlphaMissense 0.06
- MetaLR 0.02
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.95
- MutPred 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available