L100H (p.Leu100His) variant of USH2A (Usherin)
L100H (p.Leu100His) 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 0.39 / 1. The record also includes structural context.
L100H (p.Leu100His) variant details
- p.Leu100His
- rs1558082163
- ClinGen CA344904267
- ClinVar RCV001073705
- Ensembl rs1558082163
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- AlphaMissense 0.33
- MetaLR 0.18
- MetaSVM -0.77
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.39
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available