L420R (p.Leu420Arg) variant of PSEN1 (Presenilin-1)
L420R (p.Leu420Arg) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
L420R (p.Leu420Arg) variant details
- p.Leu420Arg
- rs63750802
- ClinGen CA225177
- ClinVar RCV000084409
- Ensembl rs63750802
- Pathogenic
- Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal d)
- UniProt: Pathogenic
- Structural context available