Q48H (p.Gln48His) variant of APP (Amyloid-beta precursor protein)
Q48H (p.Gln48His) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
Q48H (p.Gln48His) variant details
- p.Gln48His
- gnomAD rs2062337896
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.79
- CADD 24.70
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available