L44L (p.Leu44Leu) variant of PSEN1 (Presenilin-1)
L44L (p.Leu44Leu) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L44L (p.Leu44Leu) variant details
- p.Leu44Leu
- rs926582101
- gnomAD 14-73160027-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.371
- CADD 6.03
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available