L5F (p.Leu5Phe) variant of OCRL (Q01968)
L5F (p.Leu5Phe) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L5F (p.Leu5Phe) variant details
- p.Leu5Phe
- gnomAD X-129540452-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.21
- MetaLR 0.56
- MetaSVM -0.30
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available