L20L (p.Leu20Leu) variant of NCSTN (Nicastrin)
L20L (p.Leu20Leu) in NCSTN (Nicastrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L20L (p.Leu20Leu) variant details
- p.Leu20Leu
- gnomAD 1-160343456-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.169
- CADD 12.50
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Literature evidence available