Q17R (p.Gln17Arg) variant of PTEN (P60484)
Q17R (p.Gln17Arg) 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 0.41 / 1. The record also includes experimental measurements, published literature, and structural context.
Q17R (p.Gln17Arg) variant details
- p.Gln17Arg
- rs1858398407
- ClinGen CA377781951
- ClinVar RCV001219200
- Ensembl rs1858398407
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- ESM-1b 0.01
- AlphaMissense 0.43
- MetaLR 0.70
- MetaSVM 0.21
- PolyPhen-2 0.05
- SIFT 0.72
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PTEN VAMP-seq Combined: score 0.968
- 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)