S37A (p.Ser37Ala) variant of RAG1 (P15918)
S37A (p.Ser37Ala) 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 0.37 / 1. The record also includes population frequency data and structural context.
S37A (p.Ser37Ala) variant details
- p.Ser37Ala
- rs1162129015
- ClinGen CA380145548
- ClinVar RCV002730601
- TOPMed rs1162129015
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.23
- MetaLR 0.33
- MetaSVM -0.54
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available