R47K (p.Arg47Lys) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
R47K (p.Arg47Lys) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes experimental measurements, published literature, and structural context.
R47K (p.Arg47Lys) variant details
- p.Arg47Lys
- rs1057518425
- ClinGen CA16042720
- NCI-TCGA Cosmic COSV1009
- NCI-TCGA Cosmic COSV6429
- Likely pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Likely pathogenic (in CWS1)
- UniProt: Likely pathogenic (in CWS1)
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.25
- 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)