E107K (p.Glu107Lys) variant of PKD1 (Polycystin-1)
E107K (p.Glu107Lys) 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 0.31 / 1. The record also includes population frequency data and structural context.
E107K (p.Glu107Lys) variant details
- p.Glu107Lys
- Ensembl rs1355372612
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.21
- MetaLR 0.34
- MetaSVM -0.31
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available