A79T (p.Ala79Thr) variant of PSEN1 (Presenilin-1)
A79T (p.Ala79Thr) 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; Acne inversa, familial, 3; Alzheimer disease 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
A79T (p.Ala79Thr) variant details
- p.Ala79Thr
- ExAC rs769650189
- TOPMed rs769650189
- gnomAD rs769650189
- Uncertain significance
- Pick disease; Acne inversa, familial, 3; Alzheimer disease 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.97
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Pick disease; Acne inversa, familial, 3; Alzheimer disease 3)
- UniProt: Uncertain significance (in AD3)
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available