H194D (p.His194Asp) variant of EZH1 (Q92800)
H194D (p.His194Asp) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
H194D (p.His194Asp) variant details
- p.His194Asp
- ExAC rs773788984
- gnomAD rs773788984
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.41
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available