A42T (p.Ala42Thr) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A42T (p.Ala42Thr) 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 0.38 / 1. The record also includes population frequency data and structural context.
A42T (p.Ala42Thr) variant details
- p.Ala42Thr
- rs113818864
- ClinGen CA362163642
- ClinVar RCV002297844
- 1000Genomes rs113818864
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.21
- CADD 20.20
- PolyPhen-2 0.15
- SIFT 0.59
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available