D19H (p.Asp19His) variant of PTEN (P60484)
D19H (p.Asp19His) in PTEN (P60484) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in malignant melanoma. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes experimental measurements and structural context.
D19H (p.Asp19His) variant details
- p.Asp19His
- Ensembl rs121909233
- Pathogenic
- in malignant melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.995
- ESM-1b 1.00
- AlphaMissense 0.99
- EBI: Pathogenic (in malignant melanoma)
- UniProt: Pathogenic (in malignant melanoma)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.742