K63E (p.Lys63Glu) variant of ACTA2 (Actin, aortic smooth muscle)
K63E (p.Lys63Glu) in ACTA2 (Actin, aortic smooth muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
K63E (p.Lys63Glu) variant details
- p.Lys63Glu
- gnomAD rs1274364284
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.90
- CADD 29.50
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available