K51R (p.Lys51Arg) variant of APP (Amyloid-beta precursor protein)
K51R (p.Lys51Arg) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
K51R (p.Lys51Arg) variant details
- p.Lys51Arg
- ExAC rs749737592
- gnomAD rs749737592
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.58
- CADD 24.60
- PolyPhen-2 0.96
- SIFT 0.46
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available