Q123P (p.Gln123Pro) variant of ACTA2 (Actin, aortic smooth muscle)
Q123P (p.Gln123Pro) in ACTA2 (Actin, aortic smooth muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
Q123P (p.Gln123Pro) variant details
- p.Gln123Pro
- gnomAD 10-88943798-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available