L172Q (p.Leu172Gln) variant of APP (Amyloid-beta precursor protein)
L172Q (p.Leu172Gln) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
L172Q (p.Leu172Gln) variant details
- p.Leu172Gln
- gnomAD rs2045821993
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.98
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available