E28Q (p.Glu28Gln) variant of TGM1 (P22735)
E28Q (p.Glu28Gln) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- ExAC rs760012789
- TOPMed rs760012789
- gnomAD rs760012789
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.35
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available