K992E (p.Lys992Glu) variant of RAG1 (P15918)
K992E (p.Lys992Glu) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.62 / 1. The record also includes population frequency data and structural context.
K992E (p.Lys992Glu) variant details
- p.Lys992Glu
- rs539590514
- ClinGen CA16042785
- ClinVar RCV000414066
- ClinVar RCV000542154
- Pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.59
- CADD 26.80
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Amish population (allele frequency 0.012)
- Structural context available