V112A (p.Val112Ala) variant of APP (Amyloid-beta precursor protein)
V112A (p.Val112Ala) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
V112A (p.Val112Ala) variant details
- p.Val112Ala
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.92
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available