W208S (p.Trp208Ser) variant of NKX2-1 (Homeobox protein Nkx-2.1)
W208S (p.Trp208Ser) in NKX2-1 (Homeobox protein Nkx-2.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Benign hereditary chorea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
W208S (p.Trp208Ser) variant details
- p.Trp208Ser
- rs28936672
- ClinGen CA389459213
- ClinVar RCV002249110
- gnomAD rs28936672
- Likely pathogenic
- Benign hereditary chorea
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Likely pathogenic (Benign hereditary chorea)
- EBI: Pathogenic (in BHC)
- UniProt: Pathogenic (in BHC)
- Structural context available
- Cited in: Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary… (PMID 26723978)
- Cited in: NKX2-1-Related Disorders. (PMID 24555207)