M13I (p.Met13Ile) variant of TSC1 (Hamartin)
M13I (p.Met13Ile) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Isolated focal cortical dysplasia type II; Tuberous sclerosis 1; Lymphangiomyoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
M13I (p.Met13Ile) variant details
- p.Met13Ile
- rs2132296041
- ClinGen CA375375395
- ClinVar RCV001371801
- ClinVar RCV002488173
- Uncertain significance
- Isolated focal cortical dysplasia type II; Tuberous sclerosis 1; Lymphangiomyoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- AlphaMissense 0.39
- MetaLR 0.73
- MetaSVM 0.46
- PolyPhen-2 0.52
- SIFT 0.11
- EVE 0.53
- ClinVar: Uncertain significance (Isolated focal cortical dysplasia type II; Tuberous sclerosis 1;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)