V66L (p.Val66Leu) variant of PLAT (P00750)
V66L (p.Val66Leu) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V66L (p.Val66Leu) variant details
- p.Val66Leu
- 1000Genomes rs549540182
- ExAC rs549540182
- gnomAD rs549540182
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.08
- CADD 16.70
- PolyPhen-2 0.04
- SIFT 0.04
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available