Q172L (p.Gln172Leu) variant of NKX2-1 (Homeobox protein Nkx-2.1)
Q172L (p.Gln172Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
Q172L (p.Gln172Leu) variant details
- p.Gln172Leu
- rs2139407723
- ClinGen CA389459448
- ClinVar RCV003237304
- Likely pathogenic
- Brain-lung-thyroid syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.99
- ClinVar: Likely pathogenic (Brain-lung-thyroid syndrome)
- EBI: Likely pathogenic (in BHC)
- UniProt: Likely pathogenic (in BHC)
- Structural context available
- Cited in: NKX2-1-Related Disorders. (PMID 24555207)