T7A (p.Thr7Ala) variant of RAG2 (P55895)
T7A (p.Thr7Ala) 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 0.59 / 1. The record also includes experimental measurements and structural context.
T7A (p.Thr7Ala) variant details
- p.Thr7Ala
- rs1851108814
- ClinGen CA380145244
- ClinVar RCV001278476
- ClinVar RCV004765352
- Uncertain significance
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- AlphaMissense 0.08
- MetaLR 0.72
- MetaSVM 0.52
- PolyPhen-2 0.59
- SIFT 0.00
- MutPred 0.62
- ClinVar: Uncertain significance (Recombinase activating gene 2 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.242