I210T (p.Ile210Thr) variant of RAG2 (P55895)
I210T (p.Ile210Thr) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Common variable immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
I210T (p.Ile210Thr) variant details
- p.Ile210Thr
- rs1590715754
- ClinGen CA380142446
- ClinVar RCV001027617
- Ensembl rs1590715754
- Pathogenic
- Common variable immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.71
- CADD 26.00
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Pathogenic (Common variable immunodeficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available