Q55H (p.Gln55His) variant of NKX2-1 (Homeobox protein Nkx-2.1)
Q55H (p.Gln55His) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Q55H (p.Gln55His) variant details
- p.Gln55His
- rs1234556444
- ClinGen CA389461080
- ClinVar RCV003296136
- ClinVar RCV005102656
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- AlphaMissense 0.21
- MetaLR 0.50
- MetaSVM -0.13
- PolyPhen-2 0.99
- SIFT 0.11
- EVE 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- 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)