G60V (p.Gly60Val) variant of KRIT1 (O00522)
G60V (p.Gly60Val) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
G60V (p.Gly60Val) variant details
- p.Gly60Val
- ESP rs372556536
- TOPMed rs372556536
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available