L50L (p.Leu50Leu) variant of PSEN1 (Presenilin-1)
L50L (p.Leu50Leu) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L50L (p.Leu50Leu) variant details
- p.Leu50Leu
- gnomAD 14-73170859-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 5.80
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available