S22F (p.Ser22Phe) variant of JAK1 (Tyrosine-protein kinase JAK1)
S22F (p.Ser22Phe) 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 0.28 / 1. The record also includes population frequency data and structural context.
S22F (p.Ser22Phe) variant details
- p.Ser22Phe
- rs1644805790
- ClinGen CA340713982
- ClinVar RCV002613013
- gnomAD rs1644805790
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.07
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.01
- 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