H52R (p.His52Arg) variant of RAG2 (P55895)
H52R (p.His52Arg) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H52R (p.His52Arg) variant details
- p.His52Arg
- TOPMed rs1355385984
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.25
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.318