A63V (p.Ala63Val) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A63V (p.Ala63Val) 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 Atrial septal defect 7; Conotruncal heart malformations; Ventricular septal defe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A63V (p.Ala63Val) variant details
- p.Ala63Val
- rs530270916
- ClinGen CA3563832
- ClinVar RCV001055047
- ClinVar RCV002255174
- Conflicting interpretations
- Atrial septal defect 7; Conotruncal heart malformations; Ventricular septal defe
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.47
- CADD 16.80
- PolyPhen-2 0.11
- SIFT 0.28
- ClinVar: Conflicting classifications of pathogenicity (Atrial septal defect 7; Conotruncal heart malformations; Ventric)
- EBI: Pathogenic (in ASD7)
- UniProt: Pathogenic (in ASD7)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: NKX2.5 mutations in patients with congenital heart disease. (PMID 14607454)
- Cited in: Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. (PMID 15810002)