P49A (p.Pro49Ala) variant of PSEN1 (Presenilin-1)
P49A (p.Pro49Ala) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Alzheimer disease 3; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P49A (p.Pro49Ala) variant details
- p.Pro49Ala
- rs200373970
- ClinGen CA7256689
- ClinVar RCV002088756
- ClinVar RCV003007081
- Conflicting interpretations
- not specified; Alzheimer disease 3; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.44
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Conflicting classifications of pathogenicity (not specified; Alzheimer disease 3; Frontotemporal dementia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Alzheimer Disease Overview. (PMID 20301340)