L21M (p.Leu21Met) variant of NCSTN (Nicastrin)
L21M (p.Leu21Met) in NCSTN (Nicastrin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
L21M (p.Leu21Met) variant details
- p.Leu21Met
- ExAC rs199694056
- TOPMed rs199694056
- gnomAD rs199694056
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 0.14
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available