K34R (p.Lys34Arg) variant of TSC2 (Tuberin)
K34R (p.Lys34Arg) 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
K34R (p.Lys34Arg) variant details
- p.Lys34Arg
- rs777988634
- ClinGen CA027990
- ClinVar RCV000570293
- ClinVar RCV002530345
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.06
- CADD 15.10
- PolyPhen-2 0.17
- SIFT 0.17
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)