L2L (p.Leu2Leu) variant of PSEN2 (Presenilin-2)
L2L (p.Leu2Leu) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L2L (p.Leu2Leu) variant details
- p.Leu2Leu
- rs1203665828
- gnomAD 1-226881913-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.242
- CADD 6.77
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available