L17L (p.Leu17Leu) variant of NCSTN (Nicastrin)
L17L (p.Leu17Leu) in NCSTN (Nicastrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L17L (p.Leu17Leu) variant details
- p.Leu17Leu
- rs1315207209
- gnomAD 1-160343447-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.158
- CADD 10.90
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available
- Literature evidence available