V55L (p.Val55Leu) variant of JAK3 (Tyrosine-protein kinase JAK3)
V55L (p.Val55Leu) 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 0.42 / 1. The record also includes population frequency data and structural context.
V55L (p.Val55Leu) variant details
- p.Val55Leu
- NCI-TCGA Cosmic COSV1015
- cosmic curated COSV10151
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.28
- CADD 23.20
- PolyPhen-2 0.06
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available