Y16D (p.Tyr16Asp) variant of PTEN (P60484)
Y16D (p.Tyr16Asp) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes experimental measurements, published literature, and structural context.
Y16D (p.Tyr16Asp) variant details
- p.Tyr16Asp
- rs1064796078
- ClinGen CA16619042
- ClinVar RCV000481194
- ClinVar RCV006451848
- Pathogenic/Likely pathogenic
- not provided; PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.79
- PolyPhen-2 0.23
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; PTEN hamartoma tumor syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.13
- 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)