N113K (p.Asn113Lys) variant of ACTA2 (Actin, aortic smooth muscle)
N113K (p.Asn113Lys) in ACTA2 (Actin, aortic smooth muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
N113K (p.Asn113Lys) variant details
- p.Asn113Lys
- Ensembl rs113622728
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.82
- CADD 24.10
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available