A126T (p.Ala126Thr) variant of APP (Amyloid-beta precursor protein)
A126T (p.Ala126Thr) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
A126T (p.Ala126Thr) variant details
- p.Ala126Thr
- gnomAD rs1183474845
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.89
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available