R69G (p.Arg69Gly) variant of JAK1 (Tyrosine-protein kinase JAK1)
R69G (p.Arg69Gly) 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 0.13 / 1. The record also includes population frequency data and structural context.
R69G (p.Arg69Gly) variant details
- p.Arg69Gly
- rs762318572
- ClinGen CA340713679
- ClinVar RCV003836304
- ExAC rs762318572
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.10
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available