K178R (p.Lys178Arg) variant of APP (Amyloid-beta precursor protein)
K178R (p.Lys178Arg) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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, published literature, and structural context.
K178R (p.Lys178Arg) variant details
- p.Lys178Arg
- rs758637653
- ClinGen CA409862959
- NCI-TCGA Cosmic COSV6099
- cosmic curated COSV60998
- Uncertain significance
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.48
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Alzheimer disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Alzheimer Disease Overview. (PMID 20301340)
- Cited in: EFNS guidelines for the diagnosis and management of Alzheimer's disease. (PMID 20831773)