L18del (p.Leu18del) variant of NCSTN (Nicastrin)
L18del (p.Leu18del) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L18del (p.Leu18del) variant details
- rs764980428
- gnomAD 1-160343447-CCTT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 20.60
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- Structural context available
- Literature evidence available