R410W (p.Arg410Trp) variant of RAG1 (P15918)
R410W (p.Arg410Trp) 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 disease; Severe combined immunodeficiency, auto. 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.
R410W (p.Arg410Trp) variant details
- p.Arg410Trp
- rs758288006
- ClinGen CA5950115
- NCI-TCGA Cosmic COSV1002
- NCI-TCGA Cosmic COSV5502
- Pathogenic/Likely pathogenic
- Severe combined immunodeficiency disease; Severe combined immunodeficiency, auto
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.90
- MetaLR 0.61
- MetaSVM 0.27
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Severe combined immunodeficiency disease; Severe combined immuno)
- EBI: Pathogenic (in OS)
- UniProt: Pathogenic (in OS)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available