A3A (p.Ala3Ala) variant of PLAU (P00749)
A3A (p.Ala3Ala) in PLAU (P00749) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A3A (p.Ala3Ala) variant details
- p.Ala3Ala
- rs1255365194
- gnomAD 10-73911564-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.372
- CADD 8.56
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available