R93H (p.Arg93His) variant of JAK1 (Tyrosine-protein kinase JAK1)
R93H (p.Arg93His) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R93H (p.Arg93His) variant details
- p.Arg93His
- rs1644728239
- ClinGen CA340678934
- NCI-TCGA Cosmic COSV6109
- ClinVar RCV002790758
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.26
- MetaLR 0.05
- MetaSVM -1.05
- CADD 0.73
- PolyPhen-2 0.06
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available