P20S (p.Pro20Ser) variant of ORC1 (Q13415)
P20S (p.Pro20Ser) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P20S (p.Pro20Ser) variant details
- p.Pro20Ser
- gnomAD 13-40799122-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.63
- CADD 25.10
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available