L20L (p.Leu20Leu) variant of PSEN2 (Presenilin-2)
L20L (p.Leu20Leu) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L20L (p.Leu20Leu) variant details
- p.Leu20Leu
- gnomAD 1-226881967-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 6.03
- Population evidence available
- Structural context available
- Literature evidence available