L21V (p.Leu21Val) variant of NCSTN (Nicastrin)
L21V (p.Leu21Val) 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 0.18 / 1. The record also includes population frequency data and structural context.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- ExAC rs199694056
- TOPMed rs199694056
- gnomAD rs199694056
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 16.10
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available