N130N (p.Asn130Asn) variant of ACTA2 (Actin, aortic smooth muscle)
N130N (p.Asn130Asn) in ACTA2 (Actin, aortic smooth muscle) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
N130N (p.Asn130Asn) variant details
- p.Asn130Asn
- rs141933412
- gnomAD 10-88941849-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.142
- CADD 8.70
- Population evidence available
- Structural context available
- Literature evidence available