L2F (p.Leu2Phe) variant of PSEN2 (Presenilin-2)
L2F (p.Leu2Phe) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Alzheimer disease 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L2F (p.Leu2Phe) variant details
- p.Leu2Phe
- TOPMed rs199739625
- gnomAD rs199739625
- Uncertain significance
- Alzheimer disease 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.41
- CADD 22.60
- PolyPhen-2 0.63
- SIFT 0.06
- ClinVar: Uncertain significance (Alzheimer disease 4)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available