R24Q (p.Arg24Gln) variant of ORC1 (Q13415)
R24Q (p.Arg24Gln) in ORC1 (Q13415) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R24Q (p.Arg24Gln) variant details
- p.Arg24Gln
- rs1224929934
- ClinGen CA340366669
- ClinVar RCV003376987
- gnomAD rs1224929934
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- AlphaMissense 0.08
- MetaLR 0.05
- MetaSVM -1.09
- PolyPhen-2 0.51
- SIFT 0.15
- EVE 0.27
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)