F52S (p.Phe52Ser) variant of ORC1 (Q13415)
F52S (p.Phe52Ser) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
F52S (p.Phe52Ser) variant details
- p.Phe52Ser
- gnomAD 13-40799180-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.64
- CADD 24.80
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available