S4G (p.Ser4Gly) variant of NKX2-5 (Homeobox protein Nkx-2.5)
S4G (p.Ser4Gly) 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 0.67 / 1. The record also includes population frequency data and structural context.
S4G (p.Ser4Gly) variant details
- p.Ser4Gly
- rs1270909226
- ClinGen CA362163872
- ClinVar RCV003509233
- TOPMed rs1270909226
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.69
- CADD 28.20
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available