T38M (p.Thr38Met) variant of ORC1 (Q13415)
T38M (p.Thr38Met) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
T38M (p.Thr38Met) variant details
- p.Thr38Met
- rs764024928
- gnomAD 13-40799117-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.79
- CADD 25.80
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00063)
- Structural context available
- Literature evidence available