E47G (p.Glu47Gly) variant of OCRL (Q01968)
E47G (p.Glu47Gly) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E47G (p.Glu47Gly) variant details
- p.Glu47Gly
- gnomAD X-129544978-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.23
- MetaLR 0.50
- MetaSVM -0.44
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available