P261R (p.Pro261Arg) variant of NKX2-1 (Homeobox protein Nkx-2.1)
P261R (p.Pro261Arg) 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 Brain-lung-thyroid syndrome; Benign hereditary chorea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
P261R (p.Pro261Arg) variant details
- p.Pro261Arg
- rs1057519223
- ClinGen CA389458861
- ClinVar RCV003236851
- ClinVar RCV004818064
- Likely pathogenic
- Brain-lung-thyroid syndrome; Benign hereditary chorea
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Likely pathogenic (Brain-lung-thyroid syndrome; Benign hereditary chorea)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: NKX2-1-Related Disorders. (PMID 24555207)