S172N (p.Ser172Asn) variant of EZH1 (Q92800)
S172N (p.Ser172Asn) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S172N (p.Ser172Asn) variant details
- p.Ser172Asn
- gnomAD rs1472973980
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.32
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available