R213S (p.Arg213Ser) variant of NKX2-1 (Homeobox protein Nkx-2.1)
R213S (p.Arg213Ser) in NKX2-1 (Homeobox protein Nkx-2.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Benign hereditary chorea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
R213S (p.Arg213Ser) variant details
- p.Arg213Ser
- rs28936671
- ClinGen CA254618
- ClinVar RCV000009536
- UniProt VAR 015189
- Pathogenic
- Benign hereditary chorea
- 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 (Benign hereditary chorea)
- EBI: Pathogenic (in BHC)
- UniProt: Pathogenic (in BHC)
- Structural context available
- Cited in: Mutations in TITF-1 are associated with benign hereditary chorea. (PMID 11971878)
- Cited in: NKX2-1-Related Disorders. (PMID 24555207)