H47Q (p.His47Gln) variant of RAG2 (P55895)
H47Q (p.His47Gln) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal r. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H47Q (p.His47Gln) variant details
- p.His47Gln
- rs768914369
- ExAC rs768914369
- TOPMed rs768914369
- gnomAD rs768914369
- Uncertain significance
- Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal r
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.29
- CADD 11.40
- PolyPhen-2 0.04
- SIFT 0.17
- ClinVar: Uncertain significance (Histiocytic medullary reticulosis; Severe combined immunodeficie)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.508
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)