E3Q (p.Glu3Gln) variant of PSEN1 (Presenilin-1)
E3Q (p.Glu3Gln) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
E3Q (p.Glu3Gln) variant details
- p.Glu3Gln
- gnomAD 14-73148026-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.57
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available