R69H (p.Arg69His) variant of JAK1 (Tyrosine-protein kinase JAK1)
R69H (p.Arg69His) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and structural context.
R69H (p.Arg69His) variant details
- p.Arg69His
- rs2101217893
- ClinGen CA340679367
- ClinVar RCV003821731
- Uncertain significance
- not provided
- Missense
- MetaLR 0.02
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.02
- MutPred 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available