K120N (p.Lys120Asn) variant of ACTA2 (Actin, aortic smooth muscle)
K120N (p.Lys120Asn) in ACTA2 (Actin, aortic smooth muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
K120N (p.Lys120Asn) variant details
- p.Lys120Asn
- ExAC rs753798493
- gnomAD rs753798493
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.88
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available