V49D (p.Val49Asp) variant of USH2A (Usherin)
V49D (p.Val49Asp) 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.
V49D (p.Val49Asp) variant details
- p.Val49Asp
- rs1553258115
- ClinGen CA344904824
- ClinVar RCV000658551
- Ensembl rs1553258115
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- AlphaMissense 0.53
- MetaLR 0.14
- MetaSVM -0.68
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.57
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available