H7P (p.His7Pro) variant of NKX2-1 (Homeobox protein Nkx-2.1)
H7P (p.His7Pro) in NKX2-1 (Homeobox protein Nkx-2.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
H7P (p.His7Pro) variant details
- p.His7Pro
- rs1881229890
- ClinGen CA389461868
- ClinVar RCV002702105
- TOPMed rs1881229890
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- AlphaMissense 0.69
- MetaLR 0.42
- MetaSVM -0.20
- PolyPhen-2 0.84
- SIFT 0.00
- EVE 0.51
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)