P35L (p.Pro35Leu) variant of PKD1 (Polycystin-1)
P35L (p.Pro35Leu) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- TOPMed rs1007755475
- gnomAD rs1007755475
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.01
- MetaLR 0.03
- MetaSVM -1.01
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.98
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00032)
- Structural context available