E95D (p.Glu95Asp) variant of PKD1 (Polycystin-1)
E95D (p.Glu95Asp) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PKD1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E95D (p.Glu95Asp) variant details
- p.Glu95Asp
- rs1305213807
- ClinGen CA394396119
- ClinVar RCV000788678
- ClinVar RCV005012313
- Uncertain significance
- PKD1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.06
- MetaLR 0.17
- MetaSVM -0.87
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (PKD1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 4.2e-05)
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)