L69S (p.Leu69Ser) variant of KRIT1 (O00522)
L69S (p.Leu69Ser) in KRIT1 (O00522) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
L69S (p.Leu69Ser) variant details
- p.Leu69Ser
- Ensembl rs1799516672
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available