L90F (p.Leu90Phe) variant of PKD1 (Polycystin-1)
L90F (p.Leu90Phe) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L90F (p.Leu90Phe) variant details
- p.Leu90Phe
- ExAC rs760560538
- TOPMed rs760560538
- gnomAD rs760560538
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.23
- MetaLR 0.46
- MetaSVM -0.39
- CADD 21.90
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available