E24K (p.Glu24Lys) variant of PSEN2 (Presenilin-2)
E24K (p.Glu24Lys) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
E24K (p.Glu24Lys) variant details
- p.Glu24Lys
- ExAC rs757152552
- TOPMed rs757152552
- gnomAD rs757152552
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.61
- CADD 23.10
- PolyPhen-2 0.10
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available