L12M (p.Leu12Met) variant of PLAT (P00750)
L12M (p.Leu12Met) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L12M (p.Leu12Met) variant details
- p.Leu12Met
- 1000Genomes rs139638584
- ESP rs139638584
- ExAC rs139638584
- TOPMed rs139638584
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.35
- CADD 14.70
- PolyPhen-2 1.00
- SIFT 0.08
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available