L188M (p.Leu188Met) variant of PICALM (Q13492)
L188M (p.Leu188Met) in PICALM (Q13492) is a missense 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.
L188M (p.Leu188Met) variant details
- p.Leu188Met
- gnomAD 11-85960777-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- CADD 22.20
- Population evidence available
- Structural context available
- Literature evidence available