A56E (p.Ala56Glu) variant of TGM1 (P22735)
A56E (p.Ala56Glu) in TGM1 (P22735) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A56E (p.Ala56Glu) variant details
- p.Ala56Glu
- 1000Genomes rs147479810
- ESP rs147479810
- ExAC rs147479810
- TOPMed rs147479810
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.38
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.96
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available