M1V (p.Met1Val) variant of TSC2 (Tuberin)
M1V (p.Met1Val) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of TSC2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1055443730
- ClinGen CA276768556
- ClinVar RCV001867345
- ClinVar RCV002422931
- Uncertain significance
- TSC2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- AlphaMissense 0.12
- MetaLR 0.83
- MetaSVM 0.76
- PolyPhen-2 0.55
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (TSC2-related disorder)
- 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)