E68D (p.Glu68Asp) variant of PSEN1 (Presenilin-1)
E68D (p.Glu68Asp) in PSEN1 (Presenilin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E68D (p.Glu68Asp) variant details
- p.Glu68Asp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.52
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.28
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available