P78A (p.Pro78Ala) variant of ORC1 (Q13415)
P78A (p.Pro78Ala) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P78A (p.Pro78Ala) variant details
- p.Pro78Ala
- rs368625910
- ClinGen CA853641
- ClinVar RCV004502312
- ESP rs368625910
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- AlphaMissense 0.06
- MetaLR 0.37
- MetaSVM -0.81
- PolyPhen-2 0.03
- SIFT 0.61
- MutPred 0.42
- 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)