R54G (p.Arg54Gly) variant of TGM1 (P22735)
R54G (p.Arg54Gly) in TGM1 (P22735) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R54G (p.Arg54Gly) variant details
- p.Arg54Gly
- 1000Genomes rs140000324
- ESP rs140000324
- ExAC rs140000324
- TOPMed rs140000324
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.29
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available