D19N (p.Asp19Asn) variant of PTEN (P60484)
D19N (p.Asp19Asn) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes experimental measurements, published literature, and structural context.
D19N (p.Asp19Asn) variant details
- p.Asp19Asn
- rs121909233
- ClinGen CA000517
- ClinVar RCV000008285
- ClinVar RCV001228979
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.91
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic (in malignant melanoma)
- UniProt: Pathogenic (in malignant melanoma)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.742
- Cited in: Identification of PTEN mutations in metastatic melanoma specimens. (PMID 10978354)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)