A40T (p.Ala40Thr) variant of EZH1 (Q92800)
A40T (p.Ala40Thr) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- TOPMed rs969050561
- gnomAD rs969050561
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.25
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.35
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available