G38R (p.Gly38Arg) variant of TGM1 (P22735)
G38R (p.Gly38Arg) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G38R (p.Gly38Arg) variant details
- p.Gly38Arg
- TOPMed rs1268694454
- gnomAD rs1268694454
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.28
- CADD 16.10
- PolyPhen-2 0.98
- SIFT 0.20
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available