P104H (p.Pro104His) variant of ACTA2 (Actin, aortic smooth muscle)
P104H (p.Pro104His) in ACTA2 (Actin, aortic smooth muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P104H (p.Pro104His) variant details
- p.Pro104His
- gnomAD 10-88943855-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.90
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available