M459V (p.Met459Val) variant of RAG2 (P55895)
M459V (p.Met459Val) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
M459V (p.Met459Val) variant details
- p.Met459Val
- rs1204766339
- ClinGen CA380140498
- ClinVar RCV002667969
- ClinVar RCV004700805
- Conflicting interpretations
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.75
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available