E47D (p.Glu47Asp) variant of OCRL (Q01968)
E47D (p.Glu47Asp) 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.
E47D (p.Glu47Asp) variant details
- p.Glu47Asp
- gnomAD X-129544979-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.24
- MetaLR 0.56
- MetaSVM -0.45
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available