D19V (p.Asp19Val) variant of PTEN (P60484)
D19V (p.Asp19Val) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes experimental measurements, published literature, and structural context.
D19V (p.Asp19Val) variant details
- p.Asp19Val
- rs1554890392
- ClinGen CA377781983
- ClinVar RCV002815672
- ClinVar RCV005233024
- Pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.72
- MetaSVM 0.25
- PolyPhen-2 0.05
- SIFT 0.08
- ClinVar: Pathogenic (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: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)
- Cited in: American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for… (PMID 23619274)