A89T (p.Ala89Thr) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A89T (p.Ala89Thr) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A89T (p.Ala89Thr) variant details
- p.Ala89Thr
- TOPMed rs1761432750
- gnomAD rs1761432750
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.18
- AlphaMissense 0.08
- MetaLR 0.61
- MetaSVM -0.29
- CADD 15.90
- PolyPhen-2 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available