F52L (p.Phe52Leu) variant of ORC1 (Q13415)
F52L (p.Phe52Leu) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
F52L (p.Phe52Leu) variant details
- p.Phe52Leu
- rs776411120
- gnomAD 13-40799089-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.12
- CADD 17.10
- PolyPhen-2 0.02
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available