Q86L (p.Gln86Leu) variant of USH2A (Usherin)
Q86L (p.Gln86Leu) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Usher syndrome type 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
Q86L (p.Gln86Leu) variant details
- p.Gln86Leu
- rs747033392
- ClinGen CA344904354
- ClinVar RCV003881686
- Uncertain significance
- Usher syndrome type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- AlphaMissense 0.15
- MetaLR 0.14
- MetaSVM -0.87
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.32
- ClinVar: Uncertain significance (Usher syndrome type 2A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Usher Syndrome Type II. (PMID 20301515)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)