T8R (p.Thr8Arg) variant of NKX2-5 (Homeobox protein Nkx-2.5)
T8R (p.Thr8Arg) 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 0.77 / 1. The record also includes structural context.
T8R (p.Thr8Arg) variant details
- p.Thr8Arg
- rs768954078
- ClinGen CA362163844
- ClinVar RCV003620755
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- AlphaMissense 0.34
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.21
- ClinVar: Uncertain significance (Atrial septal defect 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available