V21L (p.Val21Leu) variant of TSC1 (Hamartin)
V21L (p.Val21Leu) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Tuberous sclerosis syndro. 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.
V21L (p.Val21Leu) variant details
- p.Val21Leu
- rs1392596033
- ClinGen CA375375348
- ClinVar RCV000795310
- ClinVar RCV001572386
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Tuberous sclerosis syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.39
- CADD 18.80
- PolyPhen-2 0.80
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Tuberous)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)