P37L (p.Pro37Leu) variant of RAG2 (P55895)
P37L (p.Pro37Leu) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.93 / 1. The record also includes experimental measurements and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- rs1851104914
- ClinGen CA380144592
- ClinVar RCV001331310
- ClinVar RCV003227961
- Conflicting interpretations
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- AlphaMissense 0.92
- MetaLR 0.93
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.81
- ClinVar: Conflicting classifications of pathogenicity (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -1.18