Q65E (p.Gln65Glu) variant of PSEN1 (Presenilin-1)
Q65E (p.Gln65Glu) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Q65E (p.Gln65Glu) variant details
- p.Gln65Glu
- gnomAD 14-73170902-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.50
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available