L78* (p.Leu78Ter) variant of MRE11 (P49959)
L78* (p.Leu78Ter) in MRE11 (P49959) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
L78* (p.Leu78Ter) variant details
- p.Leu78Ter
- rs2135122539
- Ensembl rs2135122539
- ClinGen CA382379585
- ClinVar RCV003476512
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)