D23G (p.Asp23Gly) variant of TSC1 (Hamartin)
D23G (p.Asp23Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
D23G (p.Asp23Gly) variant details
- p.Asp23Gly
- rs1847034874
- ClinGen CA375375337
- ClinVar RCV001234163
- Ensembl rs1847034874
- Uncertain significance
- Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.49
- CADD 20.50
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Uncertain significance (Tuberous sclerosis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)