G96R (p.Gly96Arg) variant of TGM1 (P22735)
G96R (p.Gly96Arg) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G96R (p.Gly96Arg) variant details
- p.Gly96Arg
- 1000Genomes rs547714904
- ExAC rs547714904
- TOPMed rs547714904
- gnomAD rs547714904
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.46
- CADD 8.53
- PolyPhen-2 0.18
- SIFT 0.18
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available