K121N (p.Lys121Asn) variant of TSC1 (Hamartin)
K121N (p.Lys121Asn) 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; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
K121N (p.Lys121Asn) variant details
- p.Lys121Asn
- rs118203370
- ClinGen CA375374287
- ClinVar RCV001231647
- ClinVar RCV004679020
- Pathogenic/Likely pathogenic
- Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- AlphaMissense 0.96
- MetaLR 0.83
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic/Likely pathogenic (Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome; n)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)