M24T (p.Met24Thr) variant of EZH1 (Q92800)
M24T (p.Met24Thr) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
M24T (p.Met24Thr) variant details
- p.Met24Thr
- Ensembl rs2053880202
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.78
- CADD 22.60
- PolyPhen-2 0.35
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available