R105W (p.Arg105Trp) variant of ORC1 (Q13415)
R105W (p.Arg105Trp) in ORC1 (Q13415) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Meier-Gorlin syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R105W (p.Arg105Trp) variant details
- p.Arg105Trp
- rs778980446
- ClinGen CA340364785
- ClinVar RCV001375044
- ExAC rs778980446
- Likely pathogenic
- Meier-Gorlin syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- AlphaMissense 0.18
- MetaLR 0.77
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Meier-Gorlin syndrome 1)
- EBI: Likely pathogenic (in MGORS1)
- UniProt: Likely pathogenic (in MGORS1)
- Population evidence available
- Structural context available