S9G (p.Ser9Gly) variant of RAG2 (P55895)
S9G (p.Ser9Gly) 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 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S9G (p.Ser9Gly) variant details
- p.Ser9Gly
- rs1851108332
- ClinGen CA380145206
- ClinVar RCV002047019
- ClinVar RCV004765359
- Uncertain significance
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.30
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Recombinase activating gene 2 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.739