L128V (p.Leu128Val) variant of APP (Amyloid-beta precursor protein)
L128V (p.Leu128Val) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
L128V (p.Leu128Val) variant details
- p.Leu128Val
- gnomAD rs2045912264
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.83
- CADD 26.30
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available