Q65R (p.Gln65Arg) variant of PSEN1 (Presenilin-1)
Q65R (p.Gln65Arg) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q65R (p.Gln65Arg) variant details
- p.Gln65Arg
- TOPMed rs2040750047
- gnomAD rs2040750047
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.51
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available