M13V (p.Met13Val) variant of TSC1 (Hamartin)
M13V (p.Met13Val) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
M13V (p.Met13Val) variant details
- p.Met13Val
- rs768147590
- ClinGen CA037422
- ClinVar RCV002020927
- ExAC rs768147590
- Uncertain significance
- Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.31
- AlphaMissense 0.09
- MetaLR 0.38
- MetaSVM -0.56
- CADD 19.40
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)