E81* (p.Glu81Ter) variant of MAPK1 (P28482)
E81* (p.Glu81Ter) in MAPK1 (P28482) 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.
E81* (p.Glu81Ter) variant details
- p.Glu81Ter
- Ensembl rs2145705605
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- MAPK1 VRT-11E: score 5.9