A66G (p.Ala66Gly) variant of ORC1 (Q13415)
A66G (p.Ala66Gly) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A66G (p.Ala66Gly) variant details
- p.Ala66Gly
- rs753868358
- gnomAD 13-40799219-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.58
- CADD 23.20
- PolyPhen-2 0.14
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available