G20E (p.Gly20Glu) variant of PTEN (P60484)
G20E (p.Gly20Glu) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; PTEN hamartoma tumor 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.
G20E (p.Gly20Glu) variant details
- p.Gly20Glu
- rs1064795967
- ClinGen CA16619043
- ClinVar RCV000482456
- ClinVar RCV004806366
- Uncertain significance
- not provided; PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; PTEN hamartoma tumor syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.872
- Cited in: Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. (PMID 10866302)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)