R17Q (p.Arg17Gln) variant of PSEN2 (Presenilin-2)
R17Q (p.Arg17Gln) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R17Q (p.Arg17Gln) variant details
- p.Arg17Gln
- rs964890810
- TOPMed rs964890810
- gnomAD rs964890810
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.60
- CADD 22.90
- PolyPhen-2 0.25
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available