H3P (p.His3Pro) variant of ORC1 (Q13415)
H3P (p.His3Pro) in ORC1 (Q13415) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
H3P (p.His3Pro) variant details
- p.His3Pro
- rs146333732
- ClinGen CA853702
- ClinVar RCV003028741
- ESP rs146333732
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- AlphaMissense 0.08
- MetaLR 0.07
- MetaSVM -1.07
- PolyPhen-2 0.02
- SIFT 0.66
- MutPred 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available