G9E (p.Gly9Glu) variant of NCSTN (Nicastrin)
G9E (p.Gly9Glu) in NCSTN (Nicastrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G9E (p.Gly9Glu) variant details
- p.Gly9Glu
- rs1041921165
- ClinGen CA343274365
- ClinVar RCV002994031
- TOPMed rs1041921165
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.09
- MetaSVM -1.06
- CADD 8.51
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available