A2A (p.Ala2Ala) variant of ORC1 (Q13415)
A2A (p.Ala2Ala) in ORC1 (Q13415) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs573033866
- gnomAD 13-40793244-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.191
- CADD 7.02
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Literature evidence available