D82G (p.Asp82Gly) variant of JAK1 (Tyrosine-protein kinase JAK1)
D82G (p.Asp82Gly) 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 0.35 / 1. The record also includes population frequency data and structural context.
D82G (p.Asp82Gly) variant details
- p.Asp82Gly
- rs1287667661
- ClinGen CA340679129
- ClinVar RCV003671795
- gnomAD rs1287667661
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.16
- CADD 24.40
- PolyPhen-2 0.16
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available