V255G (p.Val255Gly) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
V255G (p.Val255Gly) 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 Familial meningioma; Familial prostate cancer; Macrocephaly-autism syndrome. The record also includes experimental measurements and structural context.
V255G (p.Val255Gly) variant details
- p.Val255Gly
- NCI-TCGA Cosmic COSV6428
- NCI-TCGA Cosmic COSV6430
- NCI-TCGA Cosmic COSV6431
- Ensembl rs1564566998
- Likely pathogenic
- Familial meningioma; Familial prostate cancer; Macrocephaly-autism syndrome
- Missense
- ClinVar: Likely pathogenic (Familial meningioma; Familial prostate cancer; Macrocephaly-auti)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.366