K115R (p.Lys115Arg) variant of ACTA2 (Actin, aortic smooth muscle)
K115R (p.Lys115Arg) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes structural context.
K115R (p.Lys115Arg) variant details
- p.Lys115Arg
- rs794728024
- ClinGen CA006899
- ClinVar RCV000181018
- Ensembl rs794728024
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- AlphaMissense 0.49
- MetaLR 0.88
- MetaSVM 0.94
- PolyPhen-2 0.02
- EVE 0.44
- MutPred 0.66
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available