R213C (p.Arg213Cys) variant of NKX2-1 (Homeobox protein Nkx-2.1)
R213C (p.Arg213Cys) 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 Brain-lung-thyroid syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
R213C (p.Arg213Cys) variant details
- p.Arg213Cys
- rs28936671
- ClinGen CA389459177
- ClinVar RCV001570984
- ClinVar RCV001732211
- Pathogenic/Likely pathogenic
- Brain-lung-thyroid syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic/Likely pathogenic (Brain-lung-thyroid syndrome; not provided)
- EBI: Pathogenic (in BHC)
- UniProt: Pathogenic (in BHC)
- Structural context available
- Cited in: NKX2-1-Related Disorders. (PMID 24555207)