H96N (p.His96Asn) variant of EZH1 (Q92800)
H96N (p.His96Asn) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
H96N (p.His96Asn) variant details
- p.His96Asn
- gnomAD rs1482022257
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.35
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available