A126V (p.Ala126Val) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
A126V (p.Ala126Val) 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/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; PTEN hamartoma tumor synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A126V (p.Ala126Val) variant details
- p.Ala126Val
- rs1114167656
- ClinGen CA377482302
- NCI-TCGA Cosmic COSV6429
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; PTEN hamartoma tumor synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 20.70
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; PTEN hama)
- EBI: Pathogenic (in a patient with prostate cancer)
- UniProt: Pathogenic (in a patient with prostate cancer)
- Population evidence available
- Structural context available
- PTEN VAMP-seq Combined: score 0.806
- Cited in: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental… (PMID 20466091)
- Cited in: Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a… (PMID 34131312)