L14* (p.Leu14Ter) variant of RAG2 (P55895)
L14* (p.Leu14Ter) in RAG2 (P55895) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes experimental measurements and structural context.
L14* (p.Leu14Ter) variant details
- p.Leu14Ter
- rs2494800701
- ClinVar RCV004574689
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.149