K51I (p.Lys51Ile) variant of KRIT1 (O00522)
K51I (p.Lys51Ile) 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.
K51I (p.Lys51Ile) variant details
- p.Lys51Ile
- TOPMed rs1799532226
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available