E2G (p.Glu2Gly) variant of OCRL (Q01968)
E2G (p.Glu2Gly) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- gnomAD X-129540444-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.35
- MetaLR 0.63
- MetaSVM 0.35
- CADD 24.30
- PolyPhen-2 0.05
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available