A11T (p.Ala11Thr) variant of APP (Amyloid-beta precursor protein)
A11T (p.Ala11Thr) 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 0.33 / 1. The record also includes population frequency data and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- rs1180882911
- 1000Genomes rs1180882911
- gnomAD rs1180882911
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.17
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.29
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available