Q7E (p.Gln7Glu) variant of STK11 (Q15831)
Q7E (p.Gln7Glu) in STK11 (Q15831) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q7E (p.Gln7Glu) variant details
- p.Gln7Glu
- Ensembl rs2080669968
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available