A80T (p.Ala80Thr) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A80T (p.Ala80Thr) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A80T (p.Ala80Thr) variant details
- p.Ala80Thr
- TOPMed rs1761434661
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.12
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available