A15V (p.Ala15Val) variant of APP (Amyloid-beta precursor protein)
A15V (p.Ala15Val) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- rs913925398
- ClinGen CA410167207
- ClinVar RCV001425635
- 1000Genomes rs913925398
- Likely benign
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.25
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Likely benign (Alzheimer disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)