T108K (p.Thr108Lys) variant of ACTA2 (Actin, aortic smooth muscle)
T108K (p.Thr108Lys) in ACTA2 (Actin, aortic smooth muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
T108K (p.Thr108Lys) variant details
- p.Thr108Lys
- gnomAD 10-88943843-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.82
- CADD 27.80
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available