A61V (p.Ala61Val) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A61V (p.Ala61Val) 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 Atrial septal defect 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A61V (p.Ala61Val) variant details
- p.Ala61Val
- rs864321650
- ClinGen CA362163523
- ClinVar RCV002904410
- TOPMed rs864321650
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.17
- AlphaMissense 0.08
- MetaLR 0.64
- MetaSVM -0.36
- CADD 19.60
- PolyPhen-2 0.06
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available