P9S (p.Pro9Ser) variant of JAK3 (Tyrosine-protein kinase JAK3)
P9S (p.Pro9Ser) 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 0.51 / 1. The record also includes population frequency data and structural context.
P9S (p.Pro9Ser) variant details
- p.Pro9Ser
- rs774076800
- NCI-TCGA Cosmic COSV1015
- cosmic curated COSV10151
- ExAC rs774076800
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- AlphaMissense 0.33
- MetaLR 0.53
- MetaSVM -0.03
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available