L176Q (p.Leu176Gln) variant of NKX2-1 (Homeobox protein Nkx-2.1)
L176Q (p.Leu176Gln) in NKX2-1 (Homeobox protein Nkx-2.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Brain-lung-thyroid syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L176Q (p.Leu176Gln) variant details
- p.Leu176Gln
- rs1555349221
- ClinGen CA389459422
- ClinVar RCV000622779
- ClinVar RCV003236825
- Pathogenic
- Inborn genetic diseases; Brain-lung-thyroid syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.59
- CADD 28.70
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Pathogenic (Inborn genetic diseases; Brain-lung-thyroid syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: NKX2-1-Related Disorders. (PMID 24555207)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)