V182A (p.Val182Ala) variant of APP (Amyloid-beta precursor protein)
V182A (p.Val182Ala) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
V182A (p.Val182Ala) variant details
- p.Val182Ala
- TOPMed rs771317418
- gnomAD rs771317418
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.87
- CADD 28.00
- PolyPhen-2 0.98
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available