G5E (p.Gly5Glu) variant of NCSTN (Nicastrin)
G5E (p.Gly5Glu) 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 0.18 / 1. The record also includes population frequency data and structural context.
G5E (p.Gly5Glu) variant details
- p.Gly5Glu
- rs528352370
- ClinGen CA1198538
- ClinVar RCV001927588
- 1000Genomes rs528352370
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 12.40
- PolyPhen-2 0.11
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- Structural context available