I956T (p.Ile956Thr) variant of RAG1 (P15918)
I956T (p.Ile956Thr) 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 0.65 / 1. The record also includes population frequency data and structural context.
I956T (p.Ile956Thr) variant details
- p.Ile956Thr
- rs182385524
- ClinGen CA5950330
- ClinVar RCV001389162
- ClinVar RCV003473990
- Pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.66
- CADD 26.30
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available