P83S (p.Pro83Ser) variant of JAK3 (Tyrosine-protein kinase JAK3)
P83S (p.Pro83Ser) in JAK3 (Tyrosine-protein kinase JAK3) 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 0.45 / 1. The record also includes population frequency data and structural context.
P83S (p.Pro83Ser) variant details
- p.Pro83Ser
- NCI-TCGA Cosmic COSV7168
- cosmic curated COSV71686
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.35
- CADD 23.60
- PolyPhen-2 0.70
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available