A442T (p.Ala442Thr) variant of RAG2 (P55895)
A442T (p.Ala442Thr) in RAG2 (P55895) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Recombinase activating gene 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
A442T (p.Ala442Thr) variant details
- p.Ala442Thr
- ExAC rs763513886
- gnomAD rs763513886
- Likely pathogenic
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.79
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Recombinase activating gene 2 deficiency)
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available