A39G (p.Ala39Gly) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A39G (p.Ala39Gly) 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 0.44 / 1. The record also includes population frequency data and structural context.
A39G (p.Ala39Gly) variant details
- p.Ala39Gly
- rs1234717083
- ClinGen CA362163656
- ClinVar RCV001203285
- TOPMed rs1234717083
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.30
- CADD 22.80
- PolyPhen-2 0.26
- SIFT 0.38
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available