Y177H (p.Tyr177His) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
Y177H (p.Tyr177His) 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 Macrocephaly-autism syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes experimental measurements and structural context.
Y177H (p.Tyr177His) variant details
- p.Tyr177His
- rs1860418425
- ClinGen CA377484337
- ClinVar RCV001251150
- Ensembl rs1860418425
- Likely pathogenic
- Macrocephaly-autism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Macrocephaly-autism syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.202