H49P (p.His49Pro) variant of PLAU (P00749)
H49P (p.His49Pro) 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, published literature, and structural context.
H49P (p.His49Pro) variant details
- p.His49Pro
- gnomAD 10-73912275-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.25
- MetaLR 0.24
- MetaSVM -0.90
- CADD 5.11
- PolyPhen-2 0.38
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available