D58Y (p.Asp58Tyr) variant of TGM1 (P22735)
D58Y (p.Asp58Tyr) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
D58Y (p.Asp58Tyr) variant details
- p.Asp58Tyr
- ESP rs139569235
- ExAC rs139569235
- TOPMed rs139569235
- gnomAD rs139569235
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.42
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available