E31D (p.Glu31Asp) variant of APP (Amyloid-beta precursor protein)
E31D (p.Glu31Asp) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, 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 0.87 / 1. The record also includes published literature and structural context.
E31D (p.Glu31Asp) variant details
- p.Glu31Asp
- rs1568989313
- ClinGen CA410167100
- ClinVar RCV002929455
- Ensembl rs1568989313
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- AlphaMissense 0.81
- MetaLR 0.91
- MetaSVM 0.90
- PolyPhen-2 0.89
- SIFT 0.00
- EVE 0.76
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)