C50W (p.Cys50Trp) variant of TGM1 (P22735)
C50W (p.Cys50Trp) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
C50W (p.Cys50Trp) variant details
- p.Cys50Trp
- ExAC rs781571049
- gnomAD rs781571049
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.57
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available