V95G (p.Val95Gly) variant of EZH2 (Q15910)
V95G (p.Val95Gly) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
V95G (p.Val95Gly) variant details
- p.Val95Gly
- rs2537322826
- ClinGen CA369707261
- ClinVar RCV002653558
- Uncertain significance
- Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.51
- CADD 23.20
- PolyPhen-2 0.90
- SIFT 0.36
- ClinVar: Uncertain significance (Weaver syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)