S18C (p.Ser18Cys) variant of JAK2 (Tyrosine-protein kinase JAK2)
S18C (p.Ser18Cys) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S18C (p.Ser18Cys) variant details
- p.Ser18Cys
- rs1351891082
- NCI-TCGA Cosmic COSV6760
- gnomAD rs1351891082
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.37
- AlphaMissense 0.07
- MetaLR 0.31
- MetaSVM -0.56
- CADD 22.00
- PolyPhen-2 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available