P69T (p.Pro69Thr) variant of PSEN2 (Presenilin-2)
P69T (p.Pro69Thr) in PSEN2 (Presenilin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P69T (p.Pro69Thr) variant details
- p.Pro69Thr
- ESP rs202133351
- ExAC rs202133351
- TOPMed rs202133351
- gnomAD rs202133351
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.54
- CADD 12.60
- PolyPhen-2 0.04
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available