R71L (p.Arg71Leu) variant of PSEN2 (Presenilin-2)
R71L (p.Arg71Leu) in PSEN2 (Presenilin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in AD4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R71L (p.Arg71Leu) variant details
- p.Arg71Leu
- ExAC rs769031756
- TOPMed rs769031756
- gnomAD rs769031756
- Uncertain significance
- in AD4
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.49
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.02
- EBI: uncertain significance (in AD4)
- UniProt: Uncertain significance (in AD4)
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available