R32W (p.Arg32Trp) variant of ORC1 (Q13415)
R32W (p.Arg32Trp) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R32W (p.Arg32Trp) variant details
- p.Arg32Trp
- rs540292884
- gnomAD 13-40799134-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.55
- CADD 23.90
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Literature evidence available