R17L (p.Arg17Leu) variant of PSEN2 (Presenilin-2)
R17L (p.Arg17Leu) in PSEN2 (Presenilin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R17L (p.Arg17Leu) variant details
- p.Arg17Leu
- TOPMed rs964890810
- gnomAD rs964890810
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.68
- CADD 22.90
- PolyPhen-2 0.45
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available