E73K (p.Glu73Lys) variant of ORC1 (Q13415)
E73K (p.Glu73Lys) in ORC1 (Q13415) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Meier-Gorlin syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E73K (p.Glu73Lys) variant details
- p.Glu73Lys
- rs373671398
- ClinGen CA853662
- cosmic curated COSV57122
- ClinVar RCV001527375
- Pathogenic
- Meier-Gorlin syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- AlphaMissense 0.14
- MetaLR 0.64
- MetaSVM -0.12
- PolyPhen-2 0.99
- SIFT 0.17
- EVE 0.55
- ClinVar: Pathogenic (Meier-Gorlin syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available