L12F (p.Leu12Phe) variant of OCRL (Q01968)
L12F (p.Leu12Phe) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- gnomAD X-129540473-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.17
- MetaLR 0.63
- MetaSVM 0.17
- CADD 21.60
- PolyPhen-2 0.07
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available