A80S (p.Ala80Ser) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A80S (p.Ala80Ser) 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 0.22 / 1. The record also includes population frequency data and structural context.
A80S (p.Ala80Ser) variant details
- p.Ala80Ser
- rs1761434661
- ClinGen CA362163420
- ClinVar RCV004518924
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.15
- CADD 9.96
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available