L155P (p.Leu155Pro) variant of RAG2 (P55895)
L155P (p.Leu155Pro) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.66 / 1. The record also includes population frequency data and structural context.
L155P (p.Leu155Pro) variant details
- p.Leu155Pro
- rs1064793250
- ClinGen CA16619321
- ClinVar RCV000478082
- ClinVar RCV001865427
- Pathogenic/Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.73
- AlphaMissense 0.83
- MetaLR 0.57
- MetaSVM 0.28
- CADD 27.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available