A2P (p.Ala2Pro) variant of JAK3 (Tyrosine-protein kinase JAK3)
A2P (p.Ala2Pro) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of T-B+ severe combined immunodeficiency due to JAK3 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- rs2147701252
- ClinGen CA404775622
- ClinVar RCV003066107
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.16
- MetaLR 0.34
- MetaSVM -0.62
- PolyPhen-2 0.68
- SIFT 0.01
- MutPred 0.21
- ClinVar: Uncertain significance (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available