M16R (p.Met16Arg) variant of PSEN1 (Presenilin-1)
M16R (p.Met16Arg) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Pick disease; Alzheimer disease 3; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
M16R (p.Met16Arg) variant details
- p.Met16Arg
- ESP rs199759305
- ExAC rs199759305
- TOPMed rs199759305
- gnomAD rs199759305
- Uncertain significance
- Pick disease; Alzheimer disease 3; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.58
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (Pick disease; Alzheimer disease 3; Frontotemporal dementia)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available