M5K (p.Met5Lys) variant of RAG2 (P55895)
M5K (p.Met5Lys) 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 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M5K (p.Met5Lys) variant details
- p.Met5Lys
- rs143415103
- ClinGen CA5950635
- ClinVar RCV000330271
- ClinVar RCV000689525
- Uncertain significance
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.55
- CADD 21.80
- PolyPhen-2 0.30
- SIFT 0.06
- ClinVar: Uncertain significance (Recombinase activating gene 2 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00029)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.554