M285R (p.Met285Arg) variant of RAG2 (P55895)
M285R (p.Met285Arg) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Recombinase activating gene 2 deficiency; Inborn error of immunity; Histiocytic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
M285R (p.Met285Arg) variant details
- p.Met285Arg
- rs121917896
- ClinGen CA122859
- ClinVar RCV000014013
- ClinVar RCV000681589
- Likely pathogenic
- Recombinase activating gene 2 deficiency; Inborn error of immunity; Histiocytic
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- AlphaMissense 0.59
- MetaLR 0.88
- MetaSVM 0.99
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.52
- ClinVar: Likely pathogenic (Recombinase activating gene 2 deficiency; Inborn error of immuni)
- EBI: Pathogenic (in OS)
- UniProt: Pathogenic (in OS)
- Structural context available
- Cited in: Partial V(D)J recombination activity leads to Omenn syndrome. (PMID 9630231)