M122I (p.Met122Ile) variant of EZH1 (Q92800)
M122I (p.Met122Ile) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
M122I (p.Met122Ile) variant details
- p.Met122Ile
- cosmic curated COSV70550
- gnomAD rs1470814709
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.70
- CADD 34.00
- PolyPhen-2 0.77
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available