K30R (p.Lys30Arg) variant of TSC1 (Hamartin)
K30R (p.Lys30Arg) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
K30R (p.Lys30Arg) variant details
- p.Lys30Arg
- rs796053452
- ClinGen CA319269
- ClinVar RCV000189831
- ClinVar RCV000230335
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Tuberous sclerosis syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.23
- CADD 19.10
- PolyPhen-2 0.12
- SIFT 0.72
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Tuberous)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 8.3e-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)