K134E (p.Lys134Glu) variant of APP (Amyloid-beta precursor protein)
K134E (p.Lys134Glu) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
K134E (p.Lys134Glu) variant details
- p.Lys134Glu
- gnomAD rs1224230940
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.81
- CADD 28.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available