E48K (p.Glu48Lys) variant of PSEN1 (Presenilin-1)
E48K (p.Glu48Lys) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- TOPMed rs1377702483
- gnomAD rs1377702483
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.65
- CADD 23.10
- PolyPhen-2 0.12
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available