R42L (p.Arg42Leu) variant of PSEN1 (Presenilin-1)
R42L (p.Arg42Leu) in PSEN1 (Presenilin-1) 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 0.48 / 1. The record also includes population frequency data and structural context.
R42L (p.Arg42Leu) variant details
- p.Arg42Leu
- 1000Genomes rs367775281
- ESP rs367775281
- ExAC rs367775281
- TOPMed rs367775281
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.63
- CADD 19.10
- PolyPhen-2 0.03
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available