R14H (p.Arg14His) variant of JAK3 (Tyrosine-protein kinase JAK3)
R14H (p.Arg14His) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar 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 0.40 / 1. The record also includes population frequency data and structural context.
R14H (p.Arg14His) variant details
- p.Arg14His
- rs780084832
- NCI-TCGA Cosmic COSV1015
- NCI-TCGA Cosmic COSV7168
- cosmic curated COSV71685
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.24
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available