A2V (p.Ala2Val) variant of TSC1 (Hamartin)
A2V (p.Ala2Val) 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 1; Lymphangiomyomato. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs1588363746
- ClinGen CA375375467
- cosmic curated COSV10588
- ClinVar RCV001296824
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1; Lymphangiomyomato
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.48
- CADD 24.20
- PolyPhen-2 0.39
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1; L)
- 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: 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)