D52N (p.Asp52Asn) variant of JAK3 (Tyrosine-protein kinase JAK3)
D52N (p.Asp52Asn) 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 0.32 / 1. The record also includes structural context.
D52N (p.Asp52Asn) variant details
- p.Asp52Asn
- rs2147700846
- ClinGen CA404775063
- ClinVar RCV001369383
- Ensembl rs2147700846
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- AlphaMissense 0.10
- MetaLR 0.20
- MetaSVM -0.87
- PolyPhen-2 0.01
- SIFT 0.16
- EVE 0.16
- ClinVar: Uncertain significance (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available