A28T (p.Ala28Thr) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A28T (p.Ala28Thr) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- rs1279595214
- ClinGen CA362163723
- ClinVar RCV000703980
- ClinVar RCV003165900
- Conflicting interpretations
- Cardiovascular phenotype; Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.28
- CADD 22.20
- PolyPhen-2 0.06
- SIFT 0.25
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Atrial septal defect 7)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available