R720Q (p.Arg720Gln) variant of ORC1 (Q13415)
R720Q (p.Arg720Gln) in ORC1 (Q13415) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fetal anomalies with a likely genetic cause; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R720Q (p.Arg720Gln) variant details
- p.Arg720Gln
- rs387906828
- ClinGen CA129047
- ClinVar RCV000023157
- ClinVar RCV001818177
- Likely pathogenic
- Fetal anomalies with a likely genetic cause; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- AlphaMissense 0.87
- MetaLR 0.61
- MetaSVM 0.46
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Likely pathogenic (Fetal anomalies with a likely genetic cause; not provided)
- EBI: Pathogenic (in MGORS1)
- UniProt: Pathogenic (in MGORS1)
- Population evidence available
- Structural context available
- Cited in: Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial… (PMID 21358633)
- Cited in: Structure of the active form of human origin recognition complex and its ATPase motor module. (PMID 28112645)