E73A (p.Glu73Ala) variant of ORC1 (Q13415)
E73A (p.Glu73Ala) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E73A (p.Glu73Ala) variant details
- p.Glu73Ala
- gnomAD 13-40799231-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.77
- CADD 26.80
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available