K99R (p.Lys99Arg) variant of APP (Amyloid-beta precursor protein)
K99R (p.Lys99Arg) 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 0.53 / 1. The record also includes population frequency data and structural context.
K99R (p.Lys99Arg) variant details
- p.Lys99Arg
- TOPMed rs2061789341
- Likely benign
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.53
- CADD 24.10
- PolyPhen-2 0.96
- SIFT 0.23
- ClinVar: Likely benign (Alzheimer disease)
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available