D65Y (p.Asp65Tyr) variant of RAG2 (P55895)
D65Y (p.Asp65Tyr) 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 0.84 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D65Y (p.Asp65Tyr) variant details
- p.Asp65Tyr
- rs909264507
- ClinGen CA380144219
- ClinVar RCV000489480
- ClinVar RCV000681576
- Likely pathogenic
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.89
- CADD 25.60
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Likely pathogenic (Recombinase activating gene 2 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.318