D58H (p.Asp58His) variant of TGM1 (P22735)
D58H (p.Asp58His) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D58H (p.Asp58His) variant details
- p.Asp58His
- ESP rs139569235
- ExAC rs139569235
- TOPMed rs139569235
- gnomAD rs139569235
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.40
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available