L57M (p.Leu57Met) variant of PLAT (P00750)
L57M (p.Leu57Met) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L57M (p.Leu57Met) variant details
- p.Leu57Met
- ExAC rs774656820
- gnomAD rs774656820
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.28
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available