P132S (p.Pro132Ser) variant of EZH2 (Q15910)
P132S (p.Pro132Ser) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Weaver syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
P132S (p.Pro132Ser) variant details
- p.Pro132Ser
- rs193921148
- ClinGen CA369721814
- ClinVar RCV003887446
- UniProt VAR 067595
- Pathogenic
- Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.85
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (Weaver syndrome)
- EBI: Pathogenic (in WVS)
- UniProt: Pathogenic (in WVS)
- Structural context available
- Cited in: Mutations in EZH2 cause Weaver syndrome. (PMID 22177091)
- Cited in: Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro. (PMID 26694085)