Q56H (p.Gln56His) variant of PSEN1 (Presenilin-1)
Q56H (p.Gln56His) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
Q56H (p.Gln56His) variant details
- p.Gln56His
- ExAC rs755402092
- TOPMed rs755402092
- gnomAD rs755402092
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.55
- CADD 20.50
- PolyPhen-2 0.23
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available