A126P (p.Ala126Pro) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
A126P (p.Ala126Pro) 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 PTEN hamartoma tumor syndrome; Cowden syndrome 1; PTEN-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes experimental measurements, published literature, and structural context.
A126P (p.Ala126Pro) variant details
- p.Ala126Pro
- rs1554898129
- ClinGen CA377482298
- ClinVar RCV001378255
- ClinVar RCV003450046
- Pathogenic/Likely pathogenic
- PTEN hamartoma tumor syndrome; Cowden syndrome 1; PTEN-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic/Likely pathogenic (PTEN hamartoma tumor syndrome; Cowden syndrome 1; PTEN-related d)
- EBI: Pathogenic (in a patient with prostate cancer)
- UniProt: Pathogenic (in a patient with prostate cancer)
- Structural context available
- PTEN VAMP-seq Combined: score 0.806
- 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)