N12D (p.Asn12Asp) variant of PTEN (P60484)
N12D (p.Asn12Asp) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes experimental measurements, published literature, and structural context.
N12D (p.Asn12Asp) variant details
- p.Asn12Asp
- rs1554890340
- ClinGen CA377781890
- ClinVar RCV000563465
- ClinVar RCV002528943
- Uncertain significance
- Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- ESM-1b 1.00
- AlphaMissense 0.65
- MetaLR 0.68
- MetaSVM -0.01
- PolyPhen-2 0.08
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor sy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PTEN VAMP-seq Combined: score 0.435
- 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)