I55V (p.Ile55Val) variant of ORC1 (Q13415)
I55V (p.Ile55Val) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
I55V (p.Ile55Val) variant details
- p.Ile55Val
- gnomAD 13-40799215-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.16
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available