Y28C (p.Tyr28Cys) variant of ORC1 (Q13415)
Y28C (p.Tyr28Cys) in ORC1 (Q13415) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Y28C (p.Tyr28Cys) variant details
- p.Tyr28Cys
- rs1289766387
- ClinGen CA340366642
- ClinVar RCV004502319
- TOPMed rs1289766387
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- AlphaMissense 0.07
- MetaLR 0.14
- MetaSVM -1.01
- PolyPhen-2 0.99
- SIFT 0.14
- EVE 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)