L188V (p.Leu188Val) variant of PICALM (Q13492)
L188V (p.Leu188Val) 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.
L188V (p.Leu188Val) variant details
- p.Leu188Val
- gnomAD 11-85960777-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- CADD 22.30
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available