D6N (p.Asp6Asn) variant of ACTA2 (Actin, aortic smooth muscle)
D6N (p.Asp6Asn) in ACTA2 (Actin, aortic smooth muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
D6N (p.Asp6Asn) variant details
- p.Asp6Asn
- gnomAD rs1244752076
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.49
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available