E40G (p.Glu40Gly) variant of OCRL (Q01968)
E40G (p.Glu40Gly) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E40G (p.Glu40Gly) variant details
- p.Glu40Gly
- gnomAD X-129540823-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.41
- MetaLR 0.59
- MetaSVM -0.24
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available