G58V (p.Gly58Val) variant of NKX2-5 (Homeobox protein Nkx-2.5)
G58V (p.Gly58Val) 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; Cardiovascular phenotype. 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.
G58V (p.Gly58Val) variant details
- p.Gly58Val
- rs1012750146
- ClinGen CA132260438
- ClinVar RCV000621821
- ClinVar RCV001038484
- Conflicting interpretations
- Atrial septal defect 7; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.43
- CADD 22.90
- PolyPhen-2 0.25
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Atrial septal defect 7; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available