E47Q (p.Glu47Gln) variant of OCRL (Q01968)
E47Q (p.Glu47Gln) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E47Q (p.Glu47Gln) variant details
- p.Glu47Gln
- gnomAD X-129544977-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.17
- MetaLR 0.64
- MetaSVM -0.35
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available