F216S (p.Phe216Ser) variant of TSC1 (Hamartin)
F216S (p.Phe216Ser) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
F216S (p.Phe216Ser) variant details
- p.Phe216Ser
- rs118203416
- ClinGen CA007933
- cosmic curated COSV53772
- ClinVar RCV000042326
- Pathogenic/Likely pathogenic
- Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- AlphaMissense 0.64
- MetaLR 0.82
- MetaSVM 0.79
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.47
- ClinVar: Pathogenic/Likely pathogenic (Tuberous sclerosis 1)
- EBI: Pathogenic (in a bladder tumor)
- UniProt: Pathogenic (in a bladder tumor)
- Structural context available
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)