L188I (p.Leu188Ile) variant of PICALM (Q13492)
L188I (p.Leu188Ile) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
L188I (p.Leu188Ile) variant details
- p.Leu188Ile
- Ensembl rs74727972
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.23
- CADD 27.00
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available