P114P (p.Pro114Pro) variant of ACTA2 (Actin, aortic smooth muscle)
P114P (p.Pro114Pro) in ACTA2 (Actin, aortic smooth muscle) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P114P (p.Pro114Pro) variant details
- p.Pro114Pro
- gnomAD 10-88943824-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 11.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available