A66T (p.Ala66Thr) variant of ORC1 (Q13415)
A66T (p.Ala66Thr) 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.
A66T (p.Ala66Thr) variant details
- p.Ala66Thr
- rs531611390
- gnomAD 13-40799218-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.68
- CADD 26.10
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Literature evidence available