V49I (p.Val49Ile) variant of EZH1 (Q92800)
V49I (p.Val49Ile) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
V49I (p.Val49Ile) variant details
- p.Val49Ile
- ExAC rs749985288
- gnomAD rs749985288
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.40
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the South Asian population (allele frequency 7.1e-05)
- Structural context available