V68I (p.Val68Ile) variant of EZH1 (Q92800)
V68I (p.Val68Ile) in EZH1 (Q92800) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V68I (p.Val68Ile) variant details
- p.Val68Ile
- 1000Genomes rs199830078
- ExAC rs199830078
- TOPMed rs199830078
- gnomAD rs199830078
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.27
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.9e-05)
- Structural context available