D19H (p.Asp19His) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
D19H (p.Asp19His) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in malignant melanoma. The record also includes experimental measurements and structural context.
D19H (p.Asp19His) variant details
- p.Asp19His
- Ensembl rs121909233
- Pathogenic
- in malignant melanoma
- Missense
- EBI: Pathogenic (in malignant melanoma)
- UniProt: Pathogenic (in malignant melanoma)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.742