V25M (p.Val25Met) variant of TSC1 (Hamartin)
V25M (p.Val25Met) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Tuberous sclerosis syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V25M (p.Val25Met) variant details
- p.Val25Met
- rs1230244328
- ClinGen CA375375324
- cosmic curated COSV10588
- ClinVar RCV000642002
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Tuberous sclerosis syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.44
- CADD 22.60
- PolyPhen-2 0.71
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Tuberous)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- 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)