V127G (p.Val127Gly) variant of EZH2 (Q15910)
V127G (p.Val127Gly) in EZH2 (Q15910) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of EZH2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes structural context.
V127G (p.Val127Gly) variant details
- p.Val127Gly
- rs2129477017
- ClinGen CA369721862
- ClinVar RCV004542645
- Uncertain significance
- EZH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- AlphaMissense 1.00
- MetaLR 0.71
- MetaSVM 0.50
- PolyPhen-2 0.86
- SIFT 0.00
- EVE 0.64
- ClinVar: Uncertain significance (EZH2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available