G29D (p.Gly29Asp) variant of NCSTN (Nicastrin)
G29D (p.Gly29Asp) 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 0.30 / 1. The record also includes structural context.
G29D (p.Gly29Asp) variant details
- p.Gly29Asp
- rs920000413
- ClinGen CA343275135
- ClinVar RCV001944727
- gnomAD rs920000413
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- ESM-1b 0.08
- AlphaMissense 0.22
- MetaLR 0.18
- MetaSVM -0.85
- PolyPhen-2 0.92
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available