T77N (p.Thr77Asn) variant of RAG2 (P55895)
T77N (p.Thr77Asn) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Combined immunodeficiency with skin granulomas; Recombinase activating gene 2 de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes experimental measurements, published literature, and structural context.
T77N (p.Thr77Asn) variant details
- p.Thr77Asn
- rs121918574
- ClinGen CA122870
- ClinVar RCV000014019
- ClinVar RCV000681578
- Likely pathogenic
- Combined immunodeficiency with skin granulomas; Recombinase activating gene 2 de
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- AlphaMissense 0.21
- MetaLR 0.62
- MetaSVM 0.29
- PolyPhen-2 0.91
- SIFT 0.00
- EVE 0.07
- ClinVar: Likely pathogenic (Combined immunodeficiency with skin granulomas; Recombinase acti)
- EBI: Pathogenic (in CHIDG)
- UniProt: Pathogenic (in CHIDG)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.237
- Cited in: An immunodeficiency disease with RAG mutations and granulomas. (PMID 18463379)