E3K (p.Glu3Lys) variant of PSEN1 (Presenilin-1)
E3K (p.Glu3Lys) 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 0.64 / 1. The record also includes population frequency data and structural context.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- NCI-TCGA Cosmic COSV5619
- cosmic curated COSV56196
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.56
- CADD 24.50
- PolyPhen-2 0.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available