G68A (p.Gly68Ala) variant of APP (Amyloid-beta precursor protein)
G68A (p.Gly68Ala) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
G68A (p.Gly68Ala) variant details
- p.Gly68Ala
- TOPMed rs1307925400
- gnomAD rs1307925400
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.65
- CADD 22.80
- PolyPhen-2 0.50
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available