P28H (p.Pro28His) variant of TSC2 (Tuberin)
P28H (p.Pro28His) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P28H (p.Pro28His) variant details
- p.Pro28His
- rs1057522105
- ClinGen CA16607134
- ClinVar RCV000428159
- ClinVar RCV000468568
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.09
- AlphaMissense 0.16
- MetaLR 0.29
- MetaSVM -0.64
- CADD 22.80
- PolyPhen-2 0.78
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)