P59A (p.Pro59Ala) variant of NKX2-5 (Homeobox protein Nkx-2.5)
P59A (p.Pro59Ala) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ventricular septal defect 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P59A (p.Pro59Ala) variant details
- p.Pro59Ala
- rs387906775
- ClinGen CA212680
- ClinVar RCV000023024
- UniProt VAR 067586
- Pathogenic
- Ventricular septal defect 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.52
- CADD 17.80
- PolyPhen-2 0.26
- SIFT 0.75
- ClinVar: Pathogenic (Ventricular septal defect 3)
- EBI: Pathogenic (in VSD3)
- UniProt: Pathogenic (in VSD3)
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: A novel NKX2-5 mutation in familial ventricular septal defect. (PMID 21165553)
- Cited in: Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. (PMID 21110066)