N80S (p.Asn80Ser) variant of ACTA2 (Actin, aortic smooth muscle)
N80S (p.Asn80Ser) in ACTA2 (Actin, aortic smooth muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
N80S (p.Asn80Ser) variant details
- p.Asn80Ser
- gnomAD rs1461306311
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.85
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available