V674L (p.Val674Leu) variant of EZH2 (Q15910)
V674L (p.Val674Leu) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Weaver syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
V674L (p.Val674Leu) variant details
- p.Val674Leu
- rs1321951994
- ClinGen CA369712384
- ClinVar RCV004017179
- ClinVar RCV006264279
- Likely pathogenic
- not provided; Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (not provided; Weaver syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)