E127G (p.Glu127Gly) variant of ORC1 (Q13415)
E127G (p.Glu127Gly) 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 0.60 / 1. The record also includes published literature and structural context.
E127G (p.Glu127Gly) variant details
- p.Glu127Gly
- rs387906826
- ClinGen CA129041
- ClinVar RCV000023154
- UniProt VAR 065483
- Pathogenic
- Meier-Gorlin syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- AlphaMissense 0.14
- MetaLR 0.71
- MetaSVM 0.43
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.50
- ClinVar: Pathogenic (Meier-Gorlin syndrome 1)
- EBI: Pathogenic (in MGORS1)
- UniProt: Pathogenic (in MGORS1)
- Structural context available
- Cited in: Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial… (PMID 21358633)
- Cited in: Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. (PMID 21358631)