P42S (p.Pro42Ser) variant of RAG1 (P15918)
P42S (p.Pro42Ser) in RAG1 (P15918) 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 0.23 / 1. The record also includes population frequency data and structural context.
P42S (p.Pro42Ser) variant details
- p.Pro42Ser
- rs1338238826
- ClinGen CA380145631
- ClinVar RCV001304267
- TOPMed rs1338238826
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.14
- MetaLR 0.27
- MetaSVM -0.87
- CADD 8.91
- SIFT 0.09
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available