A16P (p.Ala16Pro) variant of NR2E3 (Q9Y5X4)
A16P (p.Ala16Pro) in NR2E3 (Q9Y5X4) 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.
A16P (p.Ala16Pro) variant details
- p.Ala16Pro
- TOPMed rs2054172010
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available