K13Q (p.Lys13Gln) variant of PTEN (P60484)
K13Q (p.Lys13Gln) in PTEN (P60484) 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 0.89 / 1. The record also includes experimental measurements, published literature, and structural context.
K13Q (p.Lys13Gln) variant details
- p.Lys13Gln
- rs1554890348
- ClinGen CA377781903
- ClinVar RCV001049877
- Ensembl rs1554890348
- Likely pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 0.97
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Likely pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.864
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: PTEN Hamartoma Tumor Syndrome. (PMID 20301661)