L5P (p.Leu5Pro) variant of OCRL (Q01968)
L5P (p.Leu5Pro) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- gnomAD X-129540453-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.46
- MetaLR 0.73
- MetaSVM 0.24
- CADD 25.00
- PolyPhen-2 0.81
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available