R40H (p.Arg40His) variant of JAK3 (Tyrosine-protein kinase JAK3)
R40H (p.Arg40His) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R40H (p.Arg40His) variant details
- p.Arg40His
- rs56384680
- ClinGen CA9302261
- cosmic curated COSV71685
- ClinVar RCV000530161
- Conflicting interpretations
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.05
- CADD 14.20
- PolyPhen-2 0.13
- SIFT 0.56
- ClinVar: Conflicting classifications of pathogenicity (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Variant of uncertain significance (in dbSNP:rs56384680)
- UniProt: Uncertain significance (in dbSNP:rs56384680)
- Most common in the HGDP:SAN population (allele frequency 0.17)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)