M459L (p.Met459Leu) variant of RAG2 (P55895)
M459L (p.Met459Leu) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
M459L (p.Met459Leu) variant details
- p.Met459Leu
- rs1204766339
- ClinGen CA380140499
- ClinVar RCV000681600
- ClinVar RCV001378887
- Likely pathogenic
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.79
- CADD 23.50
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Likely pathogenic (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available