L45S (p.Leu45Ser) variant of OCRL (Q01968)
L45S (p.Leu45Ser) 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.
L45S (p.Leu45Ser) variant details
- p.Leu45Ser
- gnomAD X-129544972-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.21
- MetaLR 0.45
- MetaSVM -0.52
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.79
- Population evidence available
- Structural context available
- Literature evidence available