M18V (p.Met18Val) variant of TSC1 (Hamartin)
M18V (p.Met18Val) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Tuberous sclerosis syndrome; Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
M18V (p.Met18Val) variant details
- p.Met18Val
- rs762059806
- ClinGen CA375375368
- ClinVar RCV002344573
- ClinVar RCV003102720
- Conflicting interpretations
- Tuberous sclerosis syndrome; Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- AlphaMissense 0.07
- MetaLR 0.22
- MetaSVM -0.85
- PolyPhen-2 0.00
- SIFT 0.30
- EVE 0.08
- ClinVar: Conflicting classifications of pathogenicity (Tuberous sclerosis syndrome; Tuberous sclerosis 1)
- EBI: Likely benign
- UniProt: Likely benign
- 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)