H47L (p.His47Leu) variant of RAG2 (P55895)
H47L (p.His47Leu) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H47L (p.His47Leu) variant details
- p.His47Leu
- rs776913146
- ClinGen CA5950619
- ClinVar RCV000299706
- ClinVar RCV000356700
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.32
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Likely benign
- UniProt: Likely benign
- 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