L70P (p.Leu70Pro) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
L70P (p.Leu70Pro) 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 0.96 / 1. The record also includes published literature and structural context.
L70P (p.Leu70Pro) variant details
- p.Leu70Pro
- rs121909226
- ClinGen CA000350
- ClinVar RCV000008272
- ClinVar RCV000758229
- Likely pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.83
- ClinVar: Likely pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic (in CWS1)
- UniProt: Pathogenic (in CWS1)
- Structural context available
- Cited in: Germline PTEN mutations in Cowden syndrome-like families. (PMID 9832031)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)