R105Q (p.Arg105Gln) variant of ORC1 (Q13415)
R105Q (p.Arg105Gln) in ORC1 (Q13415) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Meier-Gorlin syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R105Q (p.Arg105Gln) variant details
- p.Arg105Gln
- rs143141689
- ClinGen CA129045
- ClinVar RCV000023156
- ClinVar RCV000302017
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Meier-Gorlin syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- AlphaMissense 0.12
- MetaLR 0.77
- MetaSVM 0.60
- PolyPhen-2 1.00
- SIFT 0.09
- EVE 0.38
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Meier-Gorlin syndrome; not provided)
- EBI: Pathogenic (in MGORS1)
- UniProt: Pathogenic (in MGORS1)
- Population evidence available
- Structural context available
- Cited in: Meier-Gorlin syndrome: report of eight additional cases and review. (PMID 11477602)
- Cited in: Another adult with Meier-Gorlin syndrome--insights into the natural history. (PMID 14564153)