R25K (p.Arg25Lys) variant of TSC2 (Tuberin)
R25K (p.Arg25Lys) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R25K (p.Arg25Lys) variant details
- p.Arg25Lys
- rs759867905
- ClinGen CA056318
- ClinVar RCV000644165
- ClinVar RCV002388092
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.24
- AlphaMissense 0.12
- MetaLR 0.39
- MetaSVM -0.48
- CADD 25.40
- PolyPhen-2 0.93
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)