A96T (p.Ala96Thr) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A96T (p.Ala96Thr) 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 0.35 / 1. The record also includes population frequency data and structural context.
A96T (p.Ala96Thr) variant details
- p.Ala96Thr
- rs2480079367
- ClinGen CA362163323
- ClinVar RCV002437668
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.25
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.45
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available