E53K (p.Glu53Lys) variant of PSEN2 (Presenilin-2)
E53K (p.Glu53Lys) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E53K (p.Glu53Lys) variant details
- p.Glu53Lys
- TOPMed rs1216954105
- gnomAD rs1216954105
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.59
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.68
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available