L21L (p.Leu21Leu) variant of NCSTN (Nicastrin)
L21L (p.Leu21Leu) 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.
L21L (p.Leu21Leu) variant details
- p.Leu21Leu
- rs199694056
- gnomAD 1-160343457-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 12.80
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Literature evidence available