G9A (p.Gly9Ala) variant of NCSTN (Nicastrin)
G9A (p.Gly9Ala) 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 0.26 / 1. The record also includes structural context.
G9A (p.Gly9Ala) variant details
- p.Gly9Ala
- rs1041921165
- ClinGen CA31530008
- ClinVar RCV003565960
- TOPMed rs1041921165
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.09
- MetaSVM -1.06
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available