L18L (p.Leu18Leu) variant of NCSTN (Nicastrin)
L18L (p.Leu18Leu) in NCSTN (Nicastrin) 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.
L18L (p.Leu18Leu) variant details
- p.Leu18Leu
- rs141165822
- gnomAD 1-160343450-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 11.50
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available
- Literature evidence available