G8A (p.Gly8Ala) variant of TSC1 (Hamartin)
G8A (p.Gly8Ala) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary cancer-predisposing syndrome; 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.
G8A (p.Gly8Ala) variant details
- p.Gly8Ala
- rs1269896419
- ClinGen CA375375427
- ClinVar RCV000520247
- ClinVar RCV000694959
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.34
- AlphaMissense 0.17
- MetaLR 0.64
- MetaSVM 0.13
- CADD 17.30
- PolyPhen-2 0.11
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome; Tuberous)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)