G75V (p.Gly75Val) variant of PLAU (P00749)
G75V (p.Gly75Val) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G75V (p.Gly75Val) variant details
- p.Gly75Val
- gnomAD 10-73912954-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.91
- MetaLR 0.86
- MetaSVM 0.98
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available