V7S (p.Val7Ser) variant of OCRL (Q01968)
V7S (p.Val7Ser) in OCRL (Q01968) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V7S (p.Val7Ser) variant details
- p.Val7Ser
- gnomAD X-129540456-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.426
- CADD 23.50
- Population evidence available
- Structural context available
- Literature evidence available