H212D (p.His212Asp) variant of NKX2-1 (Homeobox protein Nkx-2.1)
H212D (p.His212Asp) 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 0.85 / 1. The record also includes published literature and structural context.
H212D (p.His212Asp) variant details
- p.His212Asp
- rs757694282
- ClinGen CA389459184
- ClinVar RCV003237301
- Likely pathogenic
- Brain-lung-thyroid syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.85
- PolyPhen-2 0.27
- SIFT 0.00
- EVE 0.99
- ClinVar: Likely pathogenic (Brain-lung-thyroid syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: NKX2-1-Related Disorders. (PMID 24555207)