K121M (p.Lys121Met) variant of TSC1 (Hamartin)
K121M (p.Lys121Met) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tuberous sclerosis 1; Tuberous sclerosis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
K121M (p.Lys121Met) variant details
- p.Lys121Met
- rs118203369
- ClinGen CA16612651
- ClinVar RCV000474214
- ClinVar RCV006268792
- Likely pathogenic
- Tuberous sclerosis 1; Tuberous sclerosis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- AlphaMissense 0.14
- MetaLR 0.79
- MetaSVM 0.73
- PolyPhen-2 0.93
- SIFT 0.02
- EVE 0.73
- ClinVar: Likely pathogenic (Tuberous sclerosis 1; Tuberous sclerosis syndrome)
- EBI: Likely pathogenic
- UniProt: Likely 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)