L8L (p.Leu8Leu) variant of PSEN1 (Presenilin-1)
L8L (p.Leu8Leu) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L8L (p.Leu8Leu) variant details
- p.Leu8Leu
- rs758564824
- gnomAD 14-73148043-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.279
- CADD 11.20
- Population evidence available
- Structural context available
- Literature evidence available