P28L (p.Pro28Leu) variant of PSEN2 (Presenilin-2)
P28L (p.Pro28Leu) 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 0.36 / 1. The record also includes population frequency data and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- ExAC rs748504448
- TOPMed rs748504448
- gnomAD rs748504448
- Uncertain significance
- Alzheimer disease 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.34
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (Alzheimer disease 4)
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available