L112V (p.Leu112Val) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
L112V (p.Leu112Val) 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 likely 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.
L112V (p.Leu112Val) variant details
- p.Leu112Val
- rs2132242699
- ClinGen CA377482212
- NCI-TCGA Cosmic COSV6429
- ClinVar RCV001915763
- Likely pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 0.92
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Likely pathogenic (in CWS1 and LDD)
- UniProt: Likely pathogenic (in CWS1 and LDD)
- Structural context available
- PTEN VAMP-seq Combined: score 0.26
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)