M45L (p.Met45Leu) variant of APP (Amyloid-beta precursor protein)
M45L (p.Met45Leu) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
M45L (p.Met45Leu) variant details
- p.Met45Leu
- ExAC rs771509390
- gnomAD rs771509390
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.40
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available