M22T (p.Met22Thr) variant of RAG2 (P55895)
M22T (p.Met22Thr) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M22T (p.Met22Thr) variant details
- p.Met22Thr
- rs1851106331
- ClinGen CA380144877
- ClinVar RCV003793289
- Ensembl rs1851106331
- Uncertain significance
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.52
- CADD 23.20
- PolyPhen-2 0.10
- SIFT 0.00
- ClinVar: Uncertain significance (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.121