E47V (p.Glu47Val) variant of OCRL (Q01968)
E47V (p.Glu47Val) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E47V (p.Glu47Val) variant details
- p.Glu47Val
- gnomAD X-129544978-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.28
- MetaLR 0.65
- MetaSVM -0.31
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available