P69A (p.Pro69Ala) variant of PSEN2 (Presenilin-2)
P69A (p.Pro69Ala) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Alzheimer disease 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P69A (p.Pro69Ala) variant details
- p.Pro69Ala
- rs202133351
- ClinGen CA237503
- ClinVar RCV000172099
- ClinVar RCV000763832
- Conflicting interpretations
- not specified; not provided; Alzheimer disease 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.43
- CADD 11.20
- PolyPhen-2 0.02
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Alzheimer disease 4)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)