F105C (p.Phe105Cys) variant of PSEN1 (Presenilin-1)
F105C (p.Phe105Cys) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mental deterioration; Dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
F105C (p.Phe105Cys) variant details
- p.Phe105Cys
- rs1057518919
- ClinGen CA16043483
- ClinVar RCV000415024
- Ensembl rs1057518919
- Pathogenic
- Mental deterioration; Dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Mental deterioration; Dementia)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available