D25G (p.Asp25Gly) variant of RAG2 (P55895)
D25G (p.Asp25Gly) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Recombinase activating gene 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D25G (p.Asp25Gly) variant details
- p.Asp25Gly
- rs1851105950
- ClinGen CA380144809
- ClinVar RCV001107101
- ClinVar RCV001107102
- Uncertain significance
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.23
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Recombinase activating gene 2 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.344