E49G (p.Glu49Gly) variant of OCRL (Q01968)
E49G (p.Glu49Gly) 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.
E49G (p.Glu49Gly) variant details
- p.Glu49Gly
- gnomAD X-129544984-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.48
- MetaLR 0.70
- MetaSVM 0.08
- CADD 21.30
- PolyPhen-2 0.02
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available