E72D (p.Glu72Asp) variant of PLAU (P00749)
E72D (p.Glu72Asp) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
E72D (p.Glu72Asp) variant details
- p.Glu72Asp
- gnomAD 10-73912946-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.09
- MetaLR 0.15
- MetaSVM -1.03
- CADD 6.79
- PolyPhen-2 0.01
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available