G11V (p.Gly11Val) variant of EZH2 (Q15910)
G11V (p.Gly11Val) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
G11V (p.Gly11Val) variant details
- p.Gly11Val
- rs1400051032
- ClinGen CA369708573
- ClinVar RCV003230047
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- AlphaMissense 0.63
- MetaLR 0.82
- MetaSVM 0.80
- PolyPhen-2 0.99
- SIFT 0.09
- MutPred 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available