G95V (p.Gly95Val) variant of RAG2 (P55895)
G95V (p.Gly95Val) in RAG2 (P55895) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Histiocytic medullary reticulosis. The record also includes structural context.
G95V (p.Gly95Val) variant details
- p.Gly95Val
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10027
- NCI-TCGA Cosmic COSV5755
- Likely pathogenic
- Histiocytic medullary reticulosis
- Missense
- ClinVar: Likely pathogenic (Histiocytic medullary reticulosis)
- UniProt: Likely pathogenic
- Structural context available