E2E (p.Glu2Glu) variant of OCRL (Q01968)
E2E (p.Glu2Glu) in OCRL (Q01968) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E2E (p.Glu2Glu) variant details
- p.Glu2Glu
- rs1270889316
- gnomAD X-129540445-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 11.20
- Most common in the East Asian population (allele frequency 0.0003)
- Structural context available
- Literature evidence available