L188L (p.Leu188Leu) variant of PICALM (Q13492)
L188L (p.Leu188Leu) in PICALM (Q13492) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L188L (p.Leu188Leu) variant details
- p.Leu188Leu
- rs1398922666
- gnomAD 11-85960775-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 20.70
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available