N12I (p.Asn12Ile) variant of PTEN (P60484)
N12I (p.Asn12Ile) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes experimental measurements, published literature, and structural context.
N12I (p.Asn12Ile) variant details
- p.Asn12Ile
- rs1085308044
- ClinGen CA377781896
- ClinVar RCV001214844
- Ensembl rs1085308044
- Likely pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- ESM-1b 1.00
- AlphaMissense 0.45
- MetaLR 0.72
- MetaSVM 0.25
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Likely pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.435
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: PTEN Hamartoma Tumor Syndrome. (PMID 20301661)