Y100C (p.Tyr100Cys) variant of JAK3 (Tyrosine-protein kinase JAK3)
Y100C (p.Tyr100Cys) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
Y100C (p.Tyr100Cys) variant details
- p.Tyr100Cys
- rs137852624
- ClinGen CA120300
- ClinVar RCV000009954
- UniProt VAR 006284
- Pathogenic
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.68
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Pathogenic (in T(-)B(+)NK(-) SCID)
- UniProt: Pathogenic (in T(-)B(+)NK(-) SCID)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Unexpected effects of FERM domain mutations on catalytic activity of Jak3: structural implication for Janus kinases. (PMID 11741532)
- Cited in: Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). (PMID 7659163)