K13N (p.Lys13Asn) variant of PTEN (P60484)
K13N (p.Lys13Asn) 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 0.88 / 1. The record also includes experimental measurements, published literature, and structural context.
K13N (p.Lys13Asn) variant details
- p.Lys13Asn
- rs2132145687
- Ensembl rs2132145687
- ClinGen CA377781912
- ClinVar RCV002357791
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 0.89
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- PTEN VAMP-seq Combined: score 0.864
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)