H52Q (p.His52Gln) variant of RAG2 (P55895)
H52Q (p.His52Gln) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H52Q (p.His52Gln) variant details
- p.His52Gln
- rs1851102640
- ClinGen CA380144386
- ClinVar RCV003069138
- gnomAD rs1851102640
- Uncertain significance
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.25
- CADD 1.13
- PolyPhen-2 0.00
- SIFT 0.81
- ClinVar: Uncertain significance (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.318