L12I (p.Leu12Ile) variant of OCRL (Q01968)
L12I (p.Leu12Ile) 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.
L12I (p.Leu12Ile) variant details
- p.Leu12Ile
- gnomAD X-129540473-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.26
- MetaLR 0.56
- MetaSVM -0.33
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available