K51N (p.Lys51Asn) variant of APP (Amyloid-beta precursor protein)
K51N (p.Lys51Asn) in APP (Amyloid-beta precursor protein) is a missense change. 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.
K51N (p.Lys51Asn) variant details
- p.Lys51Asn
- 1000Genomes rs529782627
- ExAC rs529782627
- gnomAD rs529782627
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.74
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available