G206A (p.Gly206Ala) variant of PSEN1 (Presenilin-1)
G206A (p.Gly206Ala) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant PSEN1-related disorders; Frontotemporal dementia; Acne invers. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G206A (p.Gly206Ala) variant details
- p.Gly206Ala
- rs63750082
- ClinGen CA258122
- ClinVar RCV000019773
- ClinVar RCV000518563
- Pathogenic
- Autosomal dominant PSEN1-related disorders; Frontotemporal dementia; Acne invers
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.92
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.92
- CADD 26.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Autosomal dominant PSEN1-related disorders; Frontotemporal demen)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. (PMID 11524469)
- Cited in: A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. (PMID 11710891)