E47E (p.Glu47Glu) variant of OCRL (Q01968)
E47E (p.Glu47Glu) in OCRL (Q01968) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E47E (p.Glu47Glu) variant details
- p.Glu47Glu
- gnomAD X-129544979-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 7.89
- Population evidence available
- Structural context available
- Literature evidence available