L45F (p.Leu45Phe) variant of OCRL (Q01968)
L45F (p.Leu45Phe) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L45F (p.Leu45Phe) variant details
- p.Leu45Phe
- gnomAD X-129544973-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.16
- MetaLR 0.56
- MetaSVM -0.39
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.71
- Population evidence available
- Structural context available
- Literature evidence available