A52P (p.Ala52Pro) variant of NKX2-1 (Homeobox protein Nkx-2.1)
A52P (p.Ala52Pro) 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 0.40 / 1. The record also includes published literature and structural context.
A52P (p.Ala52Pro) variant details
- p.Ala52Pro
- rs1594407218
- ClinGen CA389461125
- ClinVar RCV002853493
- Ensembl rs1594407218
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- AlphaMissense 0.10
- MetaLR 0.37
- MetaSVM -0.42
- PolyPhen-2 0.99
- SIFT 0.03
- EVE 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases)
- 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)