M13T (p.Met13Thr) variant of TSC1 (Hamartin)
M13T (p.Met13Thr) 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; Hereditary cancer-predisposing syndrome; Tuberous s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
M13T (p.Met13Thr) variant details
- p.Met13Thr
- rs1041071543
- ClinGen CA200902500
- cosmic curated COSV10588
- ClinVar RCV001021393
- Conflicting interpretations
- Tuberous sclerosis syndrome; Hereditary cancer-predisposing syndrome; Tuberous s
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.50
- CADD 23.40
- PolyPhen-2 0.71
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Tuberous sclerosis syndrome; Hereditary cancer-predisposing synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-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)