I146T (p.Ile146Thr) variant of EZH2 (Q15910)
I146T (p.Ile146Thr) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Weaver syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
I146T (p.Ile146Thr) variant details
- p.Ile146Thr
- rs2129476940
- cosmic curated COSV57462
- ClinGen CA369721544
- ClinVar RCV002931950
- Uncertain significance
- Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.79
- CADD 23.60
- PolyPhen-2 0.14
- SIFT 0.00
- ClinVar: Uncertain significance (Weaver syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)