A99T (p.Ala99Thr) variant of USH2A (Usherin)
A99T (p.Ala99Thr) 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 0.30 / 1. The record also includes structural context.
A99T (p.Ala99Thr) variant details
- p.Ala99Thr
- rs2039686454
- ClinGen CA344904276
- ClinVar RCV001229536
- Ensembl rs2039686454
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- AlphaMissense 0.09
- MetaLR 0.04
- MetaSVM -1.01
- PolyPhen-2 0.01
- SIFT 0.32
- MutPred 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available