R25M (p.Arg25Met) variant of TSC2 (Tuberin)
R25M (p.Arg25Met) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
R25M (p.Arg25Met) variant details
- p.Arg25Met
- rs759867905
- ClinGen CA394301232
- ClinVar RCV003512954
- NCI-TCGA TCGA novel
- Uncertain significance
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 0.12
- MetaLR 0.39
- MetaSVM -0.48
- PolyPhen-2 0.93
- SIFT 0.32
- EVE 0.58
- ClinVar: Uncertain significance (Tuberous sclerosis 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)