I85V (p.Ile85Val) variant of EZH1 (Q92800)
I85V (p.Ile85Val) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
I85V (p.Ile85Val) variant details
- p.Ile85Val
- gnomAD rs1335187211
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.35
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available