A3D (p.Ala3Asp) variant of PLAU (P00749)
A3D (p.Ala3Asp) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A3D (p.Ala3Asp) variant details
- p.Ala3Asp
- gnomAD 10-73911563-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.24
- CADD 14.20
- PolyPhen-2 0.22
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available