A25V (p.Ala25Val) variant of JAK3 (Tyrosine-protein kinase JAK3)
A25V (p.Ala25Val) 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 0.24 / 1. The record also includes population frequency data and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- NCI-TCGA Cosmic COSV7168
- cosmic curated COSV71688
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.09
- CADD 15.60
- PolyPhen-2 0.16
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available