P55S (p.Pro55Ser) variant of PSEN1 (Presenilin-1)
P55S (p.Pro55Ser) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P55S (p.Pro55Ser) variant details
- p.Pro55Ser
- ExAC rs766630576
- TOPMed rs766630576
- gnomAD rs766630576
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.57
- CADD 15.80
- PolyPhen-2 0.03
- SIFT 0.15
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available