L93R (p.Leu93Arg) variant of STAT6 (P42226)
L93R (p.Leu93Arg) in STAT6 (P42226) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
L93R (p.Leu93Arg) variant details
- p.Leu93Arg
- rs483352723
- ClinGen CA229111
- ClinVar RCV000087205
- Ensembl rs483352723
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- AlphaMissense 0.18
- MetaLR 0.25
- MetaSVM -0.60
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.73
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available