F15S (p.Phe15Ser) variant of JAK1 (Tyrosine-protein kinase JAK1)
F15S (p.Phe15Ser) 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 0.54 / 1. The record also includes population frequency data and structural context.
F15S (p.Phe15Ser) variant details
- p.Phe15Ser
- rs766817040
- ClinGen CA893251
- ClinVar RCV003846324
- ExAC rs766817040
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.48
- CADD 25.20
- PolyPhen-2 0.39
- 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 7.2e-05)
- Structural context available