Q51E (p.Gln51Glu) variant of ORC1 (Q13415)
Q51E (p.Gln51Glu) in ORC1 (Q13415) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Meier-Gorlin syndrome 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q51E (p.Gln51Glu) variant details
- p.Gln51Glu
- rs182707743
- ClinGen CA853672
- ClinVar RCV001100137
- ClinVar RCV001414367
- Conflicting interpretations
- Meier-Gorlin syndrome 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- AlphaMissense 0.08
- MetaLR 0.51
- MetaSVM -0.21
- PolyPhen-2 0.30
- SIFT 0.20
- EVE 0.22
- ClinVar: Conflicting classifications of pathogenicity (Meier-Gorlin syndrome 1; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available