L38F (p.Leu38Phe) variant of PKD1 (Polycystin-1)
L38F (p.Leu38Phe) in PKD1 (Polycystin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
L38F (p.Leu38Phe) variant details
- p.Leu38Phe
- TOPMed rs1030433875
- gnomAD rs1030433875
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.01
- MetaLR 0.03
- MetaSVM -0.99
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available