R40K (p.Arg40Lys) variant of APP (Amyloid-beta precursor protein)
R40K (p.Arg40Lys) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R40K (p.Arg40Lys) variant details
- p.Arg40Lys
- ExAC rs772213572
- gnomAD rs772213572
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.32
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available