K7R (p.Lys7Arg) variant of TSC2 (Tuberin)
K7R (p.Lys7Arg) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K7R (p.Lys7Arg) variant details
- p.Lys7Arg
- rs137854215
- ClinGen CA016732
- ClinVar RCV000042450
- ClinVar RCV000466851
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.28
- AlphaMissense 0.72
- MetaLR 0.39
- MetaSVM -0.28
- CADD 28.80
- PolyPhen-2 0.99
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 0.00025)
- 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)