G120A (p.Gly120Ala) variant of APP (Amyloid-beta precursor protein)
G120A (p.Gly120Ala) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G120A (p.Gly120Ala) variant details
- p.Gly120Ala
- ExAC rs759854517
- gnomAD rs759854517
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.92
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available