Y912C (p.Tyr912Cys) variant of RAG1 (P15918)
Y912C (p.Tyr912Cys) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Histiocytic medullary reticulosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
Y912C (p.Tyr912Cys) variant details
- p.Tyr912Cys
- rs104894290
- ClinGen CA122892
- ClinVar RCV000014027
- UniProt VAR 008894
- Pathogenic
- Histiocytic medullary reticulosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic (Histiocytic medullary reticulosis)
- 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)
- Cited in: Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders. (PMID 10606976)