Y195D (p.Tyr195Asp) variant of RAG2 (P55895)
Y195D (p.Tyr195Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
Y195D (p.Tyr195Asp) variant details
- p.Tyr195Asp
- rs1479328926
- ClinGen CA380142545
- ClinVar RCV000681584
- TOPMed rs1479328926
- Likely pathogenic
- Recombinase activating gene 2 deficiency; Inborn error of immunity
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- AlphaMissense 0.75
- MetaLR 0.86
- MetaSVM 0.95
- PolyPhen-2 0.85
- SIFT 0.00
- EVE 0.47
- ClinVar: Likely pathogenic (Recombinase activating gene 2 deficiency; Inborn error of immuni)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available