D19F (p.Asp19Phe) variant of PTEN (P60484)
D19F (p.Asp19Phe) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes experimental measurements, published literature, and structural context.
D19F (p.Asp19Phe) variant details
- p.Asp19Phe
- rs1589596354
- ClinGen CA891836079
- ClinVar RCV001024195
- Ensembl rs1589596354
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance (in malignant melanoma)
- UniProt: Uncertain significance (in malignant melanoma)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.742
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)