L30P (p.Leu30Pro) variant of OCRL (Q01968)
L30P (p.Leu30Pro) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- gnomAD X-129540793-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.82
- MetaLR 0.87
- MetaSVM 0.87
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available