I70V (p.Ile70Val) variant of EZH2 (Q15910)
I70V (p.Ile70Val) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
I70V (p.Ile70Val) variant details
- p.Ile70Val
- rs2537872876
- ClinGen CA369708155
- ClinVar RCV003611490
- Uncertain significance
- Weaver syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.28
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.75
- ClinVar: Uncertain significance (Weaver syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: EZH2-Related Overgrowth. (PMID 23865096)