A63T (p.Ala63Thr) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A63T (p.Ala63Thr) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar 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.
A63T (p.Ala63Thr) variant details
- p.Ala63Thr
- ExAC rs765129454
- gnomAD rs765129454
- Uncertain significance
- Atrial septal defect 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.26
- CADD 13.90
- PolyPhen-2 0.04
- SIFT 0.57
- ClinVar: Uncertain significance (Atrial septal defect 7)
- UniProt: Uncertain significance (in ASD7)
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available