D196G (p.Asp196Gly) variant of EZH1 (Q92800)
D196G (p.Asp196Gly) in EZH1 (Q92800) is a missense change. 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.
D196G (p.Asp196Gly) variant details
- p.Asp196Gly
- gnomAD rs1465203821
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.34
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available