G33V (p.Gly33Val) variant of NKX2-1 (Homeobox protein Nkx-2.1)
G33V (p.Gly33Val) 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 not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G33V (p.Gly33Val) variant details
- p.Gly33Val
- rs200134608
- ClinGen CA258878671
- ClinVar RCV002883520
- ClinVar RCV003777883
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- AlphaMissense 0.47
- MetaLR 0.21
- MetaSVM -0.88
- PolyPhen-2 0.16
- SIFT 0.67
- EVE 0.24
- ClinVar: Uncertain significance (not provided; 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)