R161L (p.Arg161Leu) variant of NKX2-1 (Homeobox protein Nkx-2.1)
R161L (p.Arg161Leu) in NKX2-1 (Homeobox protein Nkx-2.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Thyroid cancer, nonmedullary, 1; Brain-lung-thyroid syndrome. The record also includes population frequency data and structural context.
R161L (p.Arg161Leu) variant details
- p.Arg161Leu
- TOPMed rs1881115573
- gnomAD rs1881115573
- Pathogenic/Likely pathogenic
- not provided; Thyroid cancer, nonmedullary, 1; Brain-lung-thyroid syndrome
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Thyroid cancer, nonmedullary, 1; Brain-lung-thyroi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available