A72V (p.Ala72Val) variant of NKX2-1 (Homeobox protein Nkx-2.1)
A72V (p.Ala72Val) in NKX2-1 (Homeobox protein Nkx-2.1) 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 population frequency data and structural context.
A72V (p.Ala72Val) variant details
- p.Ala72Val
- cosmic curated COSV61387
- 1000Genomes rs546402304
- TOPMed rs546402304
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available