G20V (p.Gly20Val) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
G20V (p.Gly20Val) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) 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 0.84 / 1. The record also includes experimental measurements, published literature, and structural context.
G20V (p.Gly20Val) variant details
- p.Gly20Val
- rs1064795967
- ClinGen CA377781994
- ClinVar RCV000490850
- ClinVar RCV001221711
- Likely pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- AlphaMissense 0.97
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 0.85
- SIFT 0.01
- EVE 0.56
- ClinVar: Likely pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.872
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)