P28T (p.Pro28Thr) variant of PSEN2 (Presenilin-2)
P28T (p.Pro28Thr) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alzheimer disease 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P28T (p.Pro28Thr) variant details
- p.Pro28Thr
- ExAC rs749015914
- TOPMed rs749015914
- Uncertain significance
- Alzheimer disease 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.34
- CADD 3.09
- PolyPhen-2 0.02
- SIFT 0.54
- ClinVar: Uncertain significance (Alzheimer disease 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available