W111R (p.Trp111Arg) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
W111R (p.Trp111Arg) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PTEN hamartoma tumor syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes experimental measurements, published literature, and structural context.
W111R (p.Trp111Arg) variant details
- p.Trp111Arg
- rs398123321
- ClinGen CA000401
- NCI-TCGA Cosmic COSV1009
- NCI-TCGA Cosmic COSV6428
- Pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score -0.0699
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: PTEN Hamartoma Tumor Syndrome. (PMID 20301661)