R14W (p.Arg14Trp) variant of PTEN (P60484)
R14W (p.Arg14Trp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes experimental measurements, published literature, and structural context.
R14W (p.Arg14Trp) variant details
- p.Arg14Trp
- rs1085308047
- ClinGen CA377781916
- ClinVar RCV003620824
- Ensembl rs1085308047
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.90
- MetaSVM 0.99
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.41
- 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)