S185* (p.Ser185Ter) variant of PICALM (Q13492)
S185* (p.Ser185Ter) in PICALM (Q13492) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
S185* (p.Ser185Ter) variant details
- p.Ser185Ter
- gnomAD 11-85960773-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.742
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available