V42E (p.Val42Glu) variant of TSC1 (Hamartin)
V42E (p.Val42Glu) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
V42E (p.Val42Glu) variant details
- p.Val42Glu
- rs1846926218
- ClinGen CA375375204
- ClinVar RCV001043370
- Ensembl rs1846926218
- Likely pathogenic
- Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- AlphaMissense 0.97
- MetaLR 0.82
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (Tuberous sclerosis 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)