N113T (p.Asn113Thr) variant of ACTA2 (Actin, aortic smooth muscle)
N113T (p.Asn113Thr) in ACTA2 (Actin, aortic smooth muscle) 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 0.80 / 1. The record also includes structural context.
N113T (p.Asn113Thr) variant details
- p.Asn113Thr
- rs397516680
- ClinGen CA006891
- ClinVar RCV000037192
- Ensembl rs397516680
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- AlphaMissense 0.91
- MetaLR 0.86
- MetaSVM 0.93
- PolyPhen-2 0.15
- EVE 0.64
- MutPred 0.83
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available