I444M (p.Ile444Met) variant of RAG2 (P55895)
I444M (p.Ile444Met) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
I444M (p.Ile444Met) variant details
- p.Ile444Met
- rs1564995662
- ClinGen CA380140600
- ClinVar RCV000681595
- ClinVar RCV001331311
- Likely pathogenic
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- AlphaMissense 0.51
- MetaLR 0.92
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.89
- ClinVar: Likely pathogenic (Recombinase activating gene 2 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available