V782D (p.Val782Asp) variant of RAG1 (P15918)
V782D (p.Val782Asp) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.81 / 1. The record also includes population frequency data and structural context.
V782D (p.Val782Asp) variant details
- p.Val782Asp
- rs200300629
- ClinGen CA220601518
- ClinVar RCV003108847
- ClinVar RCV004572850
- Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.92
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available