S101L (p.Ser101Leu) variant of EZH1 (Q92800)
S101L (p.Ser101Leu) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
S101L (p.Ser101Leu) variant details
- p.Ser101Leu
- ESP rs150134802
- TOPMed rs150134802
- gnomAD rs150134802
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.42
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available