G84V (p.Gly84Val) variant of TGM1 (P22735)
G84V (p.Gly84Val) 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 0.18 / 1. The record also includes population frequency data and structural context.
G84V (p.Gly84Val) variant details
- p.Gly84Val
- ExAC rs748234923
- TOPMed rs748234923
- gnomAD rs748234923
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.13
- CADD 14.70
- PolyPhen-2 0.05
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available