K64* (p.Lys64Ter) variant of RAG2 (P55895)
K64* (p.Lys64Ter) in RAG2 (P55895) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements and structural context.
K64* (p.Lys64Ter) variant details
- p.Lys64Ter
- rs2494799074
- ClinGen CA2580084111
- ClinVar RCV003013237
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.712