G62E (p.Gly62Glu) variant of TGM1 (P22735)
G62E (p.Gly62Glu) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G62E (p.Gly62Glu) variant details
- p.Gly62Glu
- TOPMed rs2040818800
- gnomAD rs2040818800
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.34
- CADD 22.20
- PolyPhen-2 1.00
- SIFT 0.18
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available