M36I (p.Met36Ile) variant of EZH1 (Q92800)
M36I (p.Met36Ile) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
M36I (p.Met36Ile) variant details
- p.Met36Ile
- gnomAD rs1194330891
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.38
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available