K134R (p.Lys134Arg) variant of APP (Amyloid-beta precursor protein)
K134R (p.Lys134Arg) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar 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 0.63 / 1. The record also includes population frequency data and structural context.
K134R (p.Lys134Arg) variant details
- p.Lys134Arg
- 1000Genomes rs576712021
- ExAC rs576712021
- TOPMed rs576712021
- gnomAD rs576712021
- Likely benign
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.62
- CADD 25.00
- PolyPhen-2 0.96
- SIFT 0.51
- ClinVar: Likely benign (Alzheimer disease)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available