Y16H (p.Tyr16His) variant of PTEN (P60484)
Y16H (p.Tyr16His) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y16H (p.Tyr16His) variant details
- p.Tyr16His
- rs1064796078
- ClinGen CA377781939
- ClinVar RCV000491437
- ClinVar RCV001821414
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.79
- CADD 23.70
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.13
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)