W208L (p.Trp208Leu) variant of NKX2-1 (Homeobox protein Nkx-2.1)
W208L (p.Trp208Leu) 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 NKX2-1-Related Disorders; not provided; Brain-lung-thyroid syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
W208L (p.Trp208Leu) variant details
- p.Trp208Leu
- rs28936672
- ClinGen CA113772
- ClinVar RCV000009537
- ClinVar RCV000282710
- Pathogenic/Likely pathogenic
- NKX2-1-Related Disorders; not provided; Brain-lung-thyroid syndrome
- 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: Pathogenic/Likely pathogenic (NKX2-1-Related Disorders; not provided; Brain-lung-thyroid syndr)
- 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)