E669K (p.Glu669Lys) variant of RAG1 (P15918)
E669K (p.Glu669Lys) in RAG1 (P15918) 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 0.82 / 1. The record also includes population frequency data and structural context.
E669K (p.Glu669Lys) variant details
- p.Glu669Lys
- rs878853004
- ClinGen CA10581269
- NCI-TCGA Cosmic COSV5502
- ClinVar RCV000223999
- Pathogenic/Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.84
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in OS)
- UniProt: Pathogenic (in OS)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available