A57S (p.Ala57Ser) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A57S (p.Ala57Ser) 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 not provided; Conotruncal heart malformations; Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A57S (p.Ala57Ser) variant details
- p.Ala57Ser
- rs549161381
- ClinGen CA3563838
- ClinVar RCV001321197
- ClinVar RCV001773641
- Conflicting interpretations
- not provided; Conotruncal heart malformations; Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.17
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Conotruncal heart malformations; Atrial septal def)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available