R25L (p.Arg25Leu) variant of OCRL (Q01968)
R25L (p.Arg25Leu) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R25L (p.Arg25Leu) variant details
- p.Arg25Leu
- gnomAD X-129540778-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.49
- MetaLR 0.65
- MetaSVM 0.03
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available