L13P (p.Leu13Pro) variant of PLAT (P00750)
L13P (p.Leu13Pro) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- TOPMed rs962301004
- gnomAD rs962301004
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.76
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available