L8F (p.Leu8Phe) variant of PLAT (P00750)
L8F (p.Leu8Phe) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
L8F (p.Leu8Phe) variant details
- p.Leu8Phe
- gnomAD rs1805751356
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.23
- CADD 9.80
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available