T152A (p.Thr152Ala) variant of APP (Amyloid-beta precursor protein)
T152A (p.Thr152Ala) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
T152A (p.Thr152Ala) variant details
- p.Thr152Ala
- ExAC rs756629390
- gnomAD rs756629390
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.40
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available