R11C (p.Arg11Cys) variant of TGM1 (P22735)
R11C (p.Arg11Cys) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R11C (p.Arg11Cys) variant details
- p.Arg11Cys
- ExAC rs747931513
- TOPMed rs747931513
- gnomAD rs747931513
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.48
- CADD 25.70
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available