D19E (p.Asp19Glu) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
D19E (p.Asp19Glu) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in malignant melanoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D19E (p.Asp19Glu) variant details
- p.Asp19Glu
- 1000Genomes rs540063602
- Likely benign
- in malignant melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.58
- MetaLR 0.79
- MetaSVM 0.59
- CADD 25.40
- PolyPhen-2 0.75
- SIFT 0.06
- EBI: Likely benign (in malignant melanoma)
- UniProt: Likely benign (in malignant melanoma)
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.742