S21G (p.Ser21Gly) variant of JAK1 (Tyrosine-protein kinase JAK1)
S21G (p.Ser21Gly) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S21G (p.Ser21Gly) variant details
- p.Ser21Gly
- ExAC rs772951153
- gnomAD rs772951153
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.24
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.12
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available