Y16C (p.Tyr16Cys) variant of PTEN (P60484)
Y16C (p.Tyr16Cys) in PTEN (P60484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes experimental measurements, published literature, and structural context.
Y16C (p.Tyr16Cys) variant details
- p.Tyr16Cys
- rs2132145799
- ClinGen CA377781941
- ClinVar RCV003620530
- Ensembl rs2132145799
- Uncertain significance
- not provided; PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.89
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; PTEN hamartoma tumor syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.13
- Cited in: Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. (PMID 10866302)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)