E31Q (p.Glu31Gln) variant of TSC1 (Hamartin)
E31Q (p.Glu31Gln) 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; Tuberous sclerosis syndrome; Tuberous s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
E31Q (p.Glu31Gln) variant details
- p.Glu31Gln
- rs1847032440
- ClinGen CA375375286
- ClinVar RCV001209299
- ClinVar RCV004010672
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis syndrome; Tuberous s
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- AlphaMissense 0.16
- MetaLR 0.68
- MetaSVM 0.39
- PolyPhen-2 0.13
- SIFT 0.10
- EVE 0.43
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tuberous sclerosis synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)