P17T (p.Pro17Thr) variant of RAG2 (P55895)
P17T (p.Pro17Thr) in RAG2 (P55895) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n. The record also includes experimental measurements and structural context.
P17T (p.Pro17Thr) variant details
- p.Pro17Thr
- cosmic curated COSV57558
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- UniProt: Uncertain significance
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.117