R11K (p.Arg11Lys) variant of PTEN (P60484)
R11K (p.Arg11Lys) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes experimental measurements, published literature, and structural context.
R11K (p.Arg11Lys) variant details
- p.Arg11Lys
- rs2132145621
- ClinGen CA377781879
- NCI-TCGA Cosmic COSV6429
- NCI-TCGA Cosmic COSV6430
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- ESM-1b 0.00
- AlphaMissense 0.37
- MetaLR 0.44
- MetaSVM -0.29
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.791
- 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)