L41L (p.Leu41Leu) variant of OCRL (Q01968)
L41L (p.Leu41Leu) in OCRL (Q01968) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L41L (p.Leu41Leu) variant details
- p.Leu41Leu
- gnomAD X-129544959-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.33
- CADD 16.60
- Population evidence available
- Structural context available
- Literature evidence available