Q56R (p.Gln56Arg) variant of PSEN1 (Presenilin-1)
Q56R (p.Gln56Arg) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
Q56R (p.Gln56Arg) variant details
- p.Gln56Arg
- ExAC rs754392688
- TOPMed rs754392688
- gnomAD rs754392688
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.62
- CADD 19.70
- PolyPhen-2 0.04
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available