S70A (p.Ser70Ala) variant of EZH1 (Q92800)
S70A (p.Ser70Ala) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S70A (p.Ser70Ala) variant details
- p.Ser70Ala
- gnomAD rs1197942975
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.12
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available