V43L (p.Val43Leu) variant of EZH1 (Q92800)
V43L (p.Val43Leu) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V43L (p.Val43Leu) variant details
- p.Val43Leu
- TOPMed rs2053850227
- gnomAD rs2053850227
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.25
- CADD 20.20
- PolyPhen-2 0.03
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available