F111L (p.Phe111Leu) variant of PKD1 (Polycystin-1)
F111L (p.Phe111Leu) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
F111L (p.Phe111Leu) variant details
- p.Phe111Leu
- TOPMed rs1238545476
- gnomAD rs1238545476
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.28
- MetaLR 0.27
- MetaSVM -0.44
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available