R973C (p.Arg973Cys) variant of RAG1 (P15918)
R973C (p.Arg973Cys) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Combined immunodeficiency with skin granulomas; Combined immunodeficiency due to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R973C (p.Arg973Cys) variant details
- p.Arg973Cys
- rs1389614116
- ClinGen CA380135985
- ClinVar RCV001060735
- ClinVar RCV001706717
- Pathogenic/Likely pathogenic
- Combined immunodeficiency with skin granulomas; Combined immunodeficiency due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.81
- AlphaMissense 1.00
- MetaLR 0.47
- MetaSVM -0.19
- CADD 27.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Combined immunodeficiency with skin granulomas; Combined immunod)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available