E28A (p.Glu28Ala) variant of TGM1 (P22735)
E28A (p.Glu28Ala) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E28A (p.Glu28Ala) variant details
- p.Glu28Ala
- gnomAD rs1325894326
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.27
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available