R32Q (p.Arg32Gln) variant of ORC1 (Q13415)
R32Q (p.Arg32Gln) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R32Q (p.Arg32Gln) variant details
- p.Arg32Gln
- rs201647638
- gnomAD 13-40799135-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.32
- CADD 20.30
- PolyPhen-2 0.10
- SIFT 0.11
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available