A29T (p.Ala29Thr) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A29T (p.Ala29Thr) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes structural context.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- rs1554093718
- ClinGen CA362163717
- ClinVar RCV000617626
- Ensembl rs1554093718
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- AlphaMissense 0.09
- MetaLR 0.69
- MetaSVM -0.19
- PolyPhen-2 0.51
- SIFT 0.20
- MutPred 0.23
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available