A57P (p.Ala57Pro) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A57P (p.Ala57Pro) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A57P (p.Ala57Pro) variant details
- p.Ala57Pro
- rs549161381
- ClinGen CA132260439
- ClinVar RCV002595959
- ClinVar RCV003130847
- Uncertain significance
- Cardiovascular phenotype; not provided; Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.18
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available