G18A (p.Gly18Ala) variant of ORC1 (Q13415)
G18A (p.Gly18Ala) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G18A (p.Gly18Ala) variant details
- p.Gly18Ala
- rs1566121208
- gnomAD 13-40799057-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.47
- CADD 31.00
- PolyPhen-2 0.59
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available