L41* (p.Leu41Ter) variant of OCRL (Q01968)
L41* (p.Leu41Ter) in OCRL (Q01968) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L41* (p.Leu41Ter) variant details
- p.Leu41Ter
- gnomAD X-129544960-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.643
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available