E28D (p.Glu28Asp) variant of TGM1 (P22735)
E28D (p.Glu28Asp) in TGM1 (P22735) 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.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- gnomAD rs1460335965
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.44
- CADD 9.44
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available