W47S (p.Trp47Ser) variant of PSEN2 (Presenilin-2)
W47S (p.Trp47Ser) 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 0.48 / 1. The record also includes population frequency data and structural context.
W47S (p.Trp47Ser) variant details
- p.Trp47Ser
- TOPMed rs1412682521
- gnomAD rs1412682521
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.46
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available