I43S (p.Ile43Ser) variant of OCRL (Q01968)
I43S (p.Ile43Ser) in OCRL (Q01968) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
I43S (p.Ile43Ser) variant details
- p.Ile43Ser
- gnomAD X-129544963-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.57
- CADD 25.60
- Population evidence available
- Structural context available
- Literature evidence available