G101D (p.Gly101Asp) variant of APP (Amyloid-beta precursor protein)
G101D (p.Gly101Asp) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G101D (p.Gly101Asp) variant details
- p.Gly101Asp
- rs532382285
- ClinGen CA9987700
- NCI-TCGA Cosmic COSV1006
- ClinVar RCV001302188
- Likely benign
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.61
- AlphaMissense 0.24
- MetaLR 0.92
- MetaSVM 1.02
- CADD 23.00
- PolyPhen-2 0.98
- ClinVar: Likely benign (Alzheimer disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: Alzheimer Disease Overview. (PMID 20301340)
- Cited in: EFNS guidelines for the diagnosis and management of Alzheimer's disease. (PMID 20831773)