R130Q (p.Arg130Gln) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
R130Q (p.Arg130Gln) 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 0.91 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R130Q (p.Arg130Gln) variant details
- p.Arg130Gln
- rs121909229
- ClinGen CA000437
- NCI-TCGA Cosmic COSV6428
- Pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic (in CWS1)
- UniProt: Pathogenic (in CWS1)
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.821
- Cited in: Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. (PMID 10866302)
- Cited in: Protean PTEN: form and function. (PMID 11875759)