E108K (p.Glu108Lys) variant of PKD1 (Polycystin-1)
E108K (p.Glu108Lys) in PKD1 (Polycystin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E108K (p.Glu108Lys) variant details
- p.Glu108Lys
- TOPMed rs1416011785
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.31
- MetaLR 0.26
- MetaSVM -0.54
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available