E67G (p.Glu67Gly) variant of PSEN1 (Presenilin-1)
E67G (p.Glu67Gly) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E67G (p.Glu67Gly) variant details
- p.Glu67Gly
- TOPMed rs1897870382
- gnomAD rs1897870382
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.59
- CADD 23.90
- PolyPhen-2 0.04
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available