C48Y (p.Cys48Tyr) variant of TGM1 (P22735)
C48Y (p.Cys48Tyr) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
C48Y (p.Cys48Tyr) variant details
- p.Cys48Tyr
- ExAC rs756287272
- gnomAD rs756287272
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.54
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available