T117A (p.Thr117Ala) variant of ABCC9 (O60706)
T117A (p.Thr117Ala) in ABCC9 (O60706) 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 0.51 / 1. The record also includes population frequency data and structural context.
T117A (p.Thr117Ala) variant details
- p.Thr117Ala
- rs1407766562
- gnomAD rs1407766562
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.45
- CADD 20.90
- PolyPhen-2 0.02
- SIFT 0.36
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available