E49D (p.Glu49Asp) variant of OCRL (Q01968)
E49D (p.Glu49Asp) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E49D (p.Glu49Asp) variant details
- p.Glu49Asp
- gnomAD X-129544985-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.23
- MetaLR 0.52
- MetaSVM -0.52
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available