D19G (p.Asp19Gly) variant of PTEN (P60484)
D19G (p.Asp19Gly) 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; Hereditary cancer-predisposing syndrome; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D19G (p.Asp19Gly) variant details
- p.Asp19Gly
- rs1554890392
- ClinGen CA377781978
- ClinVar RCV000582822
- ClinVar RCV001222181
- Uncertain significance
- PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing syndrome; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.72
- MetaSVM 0.25
- CADD 25.70
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing sy)
- EBI: Pathogenic (in malignant melanoma)
- UniProt: Pathogenic (in malignant melanoma)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.742
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)