T13P (p.Thr13Pro) variant of ORC1 (Q13415)
T13P (p.Thr13Pro) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
T13P (p.Thr13Pro) variant details
- p.Thr13Pro
- gnomAD 13-40793266-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.51
- CADD 24.50
- PolyPhen-2 0.56
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available