K6R (p.Lys6Arg) variant of PTEN (P60484)
K6R (p.Lys6Arg) 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 0.26 / 1. The record also includes experimental measurements, published literature, and structural context.
K6R (p.Lys6Arg) variant details
- p.Lys6Arg
- rs2493591646
- ClinGen CA377781821
- ClinVar RCV002407865
- ClinVar RCV006471017
- Uncertain significance
- Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- ESM-1b 0.00
- AlphaMissense 0.19
- 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 1.24
- 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)