M1K (p.Met1Lys) variant of TSC2 (Tuberin)
M1K (p.Met1Lys) 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 0.74 / 1. The record also includes published literature and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs2084667702
- ClinGen CA394300404
- ClinVar RCV001891847
- Uncertain significance
- Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- AlphaMissense 0.36
- MetaLR 0.84
- MetaSVM 0.86
- PolyPhen-2 0.87
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (Tuberous sclerosis 2)
- 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)