G451A (p.Gly451Ala) variant of RAG2 (P55895)
G451A (p.Gly451Ala) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Recombinase activating gene 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G451A (p.Gly451Ala) variant details
- p.Gly451Ala
- rs121918575
- ClinGen CA122872
- ClinVar RCV000014020
- ClinVar RCV000521152
- Pathogenic
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.91
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic (Recombinase activating gene 2 deficiency)
- EBI: Pathogenic (in CHIDG)
- UniProt: Pathogenic (in CHIDG)
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: An immunodeficiency disease with RAG mutations and granulomas. (PMID 18463379)