D131G (p.Asp131Gly) variant of APP (Amyloid-beta precursor protein)
D131G (p.Asp131Gly) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
D131G (p.Asp131Gly) variant details
- p.Asp131Gly
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.90
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available