V18L (p.Val18Leu) variant of PLAT (P00750)
V18L (p.Val18Leu) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
V18L (p.Val18Leu) variant details
- p.Val18Leu
- TOPMed rs1489185170
- gnomAD rs1489185170
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.11
- CADD 5.98
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available