P55T (p.Pro55Thr) variant of PSEN1 (Presenilin-1)
P55T (p.Pro55Thr) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P55T (p.Pro55Thr) variant details
- p.Pro55Thr
- gnomAD 14-73170872-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.49
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available