A12T (p.Ala12Thr) variant of APP (Amyloid-beta precursor protein)
A12T (p.Ala12Thr) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- gnomAD rs2063725474
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.20
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available