V205F (p.Val205Phe) variant of NKX2-1 (Homeobox protein Nkx-2.1)
V205F (p.Val205Phe) 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 Brain-lung-thyroid syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
V205F (p.Val205Phe) variant details
- p.Val205Phe
- rs137852692
- ClinGen CA120024
- ClinVar RCV000009539
- UniProt VAR 034906
- Pathogenic
- Brain-lung-thyroid syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.13
- PolyPhen-2 0.06
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (Brain-lung-thyroid syndrome)
- EBI: Pathogenic (in CAHTP)
- UniProt: Pathogenic (in CAHTP)
- Structural context available
- Cited in: Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. (PMID 11854319)
- Cited in: Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic… (PMID 24714694)