M40V (p.Met40Val) variant of TSC1 (Hamartin)
M40V (p.Met40Val) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not specified; Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
M40V (p.Met40Val) variant details
- p.Met40Val
- rs974227401
- ClinGen CA200902340
- ClinVar RCV001368550
- ClinVar RCV004681147
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified; Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.26
- CADD 15.30
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified; Tuberous)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)