Q36H (p.Gln36His) variant of PSEN1 (Presenilin-1)
Q36H (p.Gln36His) in PSEN1 (Presenilin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Q36H (p.Gln36His) variant details
- p.Gln36His
- gnomAD 14-73170816-A-AT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 25.20
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available