D19E (p.Asp19Glu) variant of PTEN (P60484)
D19E (p.Asp19Glu) in PTEN (P60484) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in malignant melanoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D19E (p.Asp19Glu) variant details
- p.Asp19Glu
- 1000Genomes rs540063602
- Benign
- in malignant melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.79
- MetaSVM 0.59
- CADD 25.40
- EBI: Benign (in malignant melanoma)
- UniProt: Benign (in malignant melanoma)
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.742