G84A (p.Gly84Ala) variant of TGM1 (P22735)
G84A (p.Gly84Ala) in TGM1 (P22735) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
G84A (p.Gly84Ala) variant details
- p.Gly84Ala
- ExAC rs748234923
- TOPMed rs748234923
- gnomAD rs748234923
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.16
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available