E28K (p.Glu28Lys) variant of TGM1 (P22735)
E28K (p.Glu28Lys) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- ExAC rs760012789
- TOPMed rs760012789
- gnomAD rs760012789
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.41
- CADD 21.10
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available