R14T (p.Arg14Thr) variant of PTEN (P60484)
R14T (p.Arg14Thr) 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; PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes experimental measurements, published literature, and structural context.
R14T (p.Arg14Thr) variant details
- p.Arg14Thr
- rs1589596246
- ClinGen CA377781920
- ClinVar RCV001057417
- ClinVar RCV002327323
- Uncertain significance
- Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- ESM-1b 1.00
- AlphaMissense 0.67
- MetaLR 0.63
- MetaSVM 0.00
- PolyPhen-2 0.00
- SIFT 0.80
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor sy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.41
- 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)