P12L (p.Pro12Leu) variant of JAK3 (Tyrosine-protein kinase JAK3)
P12L (p.Pro12Leu) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- rs56061056
- ClinGen CA9302282
- ClinVar RCV000306819
- UniProt VAR 041722
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.20
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Variant of uncertain significance (in dbSNP:rs56061056)
- UniProt: Uncertain significance (in dbSNP:rs56061056)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)