I12T (p.Ile12Thr) variant of RAG2 (P55895)
I12T (p.Ile12Thr) 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 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I12T (p.Ile12Thr) variant details
- p.Ile12Thr
- rs146584017
- ClinGen CA5950633
- ClinVar RCV000695159
- ClinVar RCV004765335
- Uncertain significance
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.41
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Recombinase activating gene 2 deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.317