Y71H (p.Tyr71His) variant of ACTA2 (Actin, aortic smooth muscle)
Y71H (p.Tyr71His) in ACTA2 (Actin, aortic smooth muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
Y71H (p.Tyr71His) variant details
- p.Tyr71His
- ExAC rs757701489
- gnomAD rs757701489
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.94
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available