H7Q (p.His7Gln) variant of NKX2-1 (Homeobox protein Nkx-2.1)
H7Q (p.His7Gln) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
H7Q (p.His7Gln) variant details
- p.His7Gln
- rs758847127
- ClinGen CA389461852
- ClinVar RCV002690795
- ClinVar RCV005445675
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- AlphaMissense 0.77
- MetaLR 0.29
- MetaSVM -0.67
- PolyPhen-2 0.00
- SIFT 0.10
- EVE 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)