A12V (p.Ala12Val) variant of APP (Amyloid-beta precursor protein)
A12V (p.Ala12Val) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- Ensembl rs1601618931
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.15
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available