L18S (p.Leu18Ser) variant of NCSTN (Nicastrin)
L18S (p.Leu18Ser) in NCSTN (Nicastrin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L18S (p.Leu18Ser) variant details
- p.Leu18Ser
- gnomAD 1-160343443-G-GTC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.352
- CADD 24.70
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available
- Literature evidence available