D36V (p.Asp36Val) variant of TSC1 (Hamartin)
D36V (p.Asp36Val) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
D36V (p.Asp36Val) variant details
- p.Asp36Val
- rs148468036
- ClinGen CA027009
- ClinVar RCV001347765
- ClinVar RCV003375242
- Uncertain significance
- Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.71
- AlphaMissense 0.28
- MetaLR 0.75
- MetaSVM 0.59
- CADD 24.90
- PolyPhen-2 0.04
- 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 1.8e-06)
- 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)