E39D (p.Glu39Asp) variant of ORC1 (Q13415)
E39D (p.Glu39Asp) in ORC1 (Q13415) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E39D (p.Glu39Asp) variant details
- p.Glu39Asp
- rs1647704264
- ClinGen CA340366552
- ClinVar RCV003035327
- gnomAD rs1647704264
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- AlphaMissense 0.09
- MetaLR 0.11
- MetaSVM -0.99
- PolyPhen-2 0.04
- SIFT 0.41
- EVE 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available