V27F (p.Val27Phe) variant of PLAU (P00749)
V27F (p.Val27Phe) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V27F (p.Val27Phe) variant details
- p.Val27Phe
- TOPMed rs2096125577
- gnomAD rs2096125577
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.21
- MetaLR 0.31
- MetaSVM -0.72
- CADD 12.70
- PolyPhen-2 0.09
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available