R179P (p.Arg179Pro) variant of NKX2-1 (Homeobox protein Nkx-2.1)
R179P (p.Arg179Pro) 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 Hereditary ataxia; Chorea; Brain-lung-thyroid syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R179P (p.Arg179Pro) variant details
- p.Arg179Pro
- rs760880632
- ClinGen CA389459404
- NCI-TCGA Cosmic COSV6138
- ClinVar RCV002463841
- Pathogenic/Likely pathogenic
- Hereditary ataxia; Chorea; Brain-lung-thyroid syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic/Likely pathogenic (Hereditary ataxia; Chorea; Brain-lung-thyroid syndrome)
- EBI: Pathogenic (in BHC)
- UniProt: Pathogenic (in BHC)
- Structural context available
- Cited in: A novel mutation of NKX2-1 affecting 2 generations with hypothyroidism and choreoathetosis: part of the spectrum of… (PMID 24453141)
- Cited in: NKX2-1-Related Disorders. (PMID 24555207)