E40E (p.Glu40Glu) variant of OCRL (Q01968)
E40E (p.Glu40Glu) in OCRL (Q01968) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E40E (p.Glu40Glu) variant details
- p.Glu40Glu
- gnomAD X-129544958-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 22.00
- Population evidence available
- Structural context available
- Literature evidence available