I12V (p.Ile12Val) variant of EZH1 (Q92800)
I12V (p.Ile12Val) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
I12V (p.Ile12Val) variant details
- p.Ile12Val
- gnomAD rs1389999641
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.26
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.53
- Most common in the HGDP:PIMA population (allele frequency 0.045)
- Structural context available