L86F (p.Leu86Phe) variant of PKD1 (Polycystin-1)
L86F (p.Leu86Phe) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L86F (p.Leu86Phe) variant details
- p.Leu86Phe
- TOPMed rs1263493445
- gnomAD rs1263493445
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.04
- MetaLR 0.09
- MetaSVM -1.00
- CADD 14.70
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the East Asian population (allele frequency 0.00023)
- Structural context available