H103K (p.His103Lys) variant of ACTA2 (Actin, aortic smooth muscle)
H103K (p.His103Lys) in ACTA2 (Actin, aortic smooth muscle) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
H103K (p.His103Lys) variant details
- p.His103Lys
- gnomAD 10-88943859-G-GCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.823
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available