Q16H (p.Gln16His) variant of RAG2 (P55895)
Q16H (p.Gln16His) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Recombinase activating gene 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q16H (p.Gln16His) variant details
- p.Gln16His
- rs1234922828
- ClinGen CA380145022
- cosmic curated COSV57558
- ClinVar RCV002850541
- Uncertain significance
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- AlphaMissense 0.36
- MetaLR 0.86
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.84
- ClinVar: Uncertain significance (Recombinase activating gene 2 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.144
- 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)