D32E (p.Asp32Glu) variant of TGM1 (P22735)
D32E (p.Asp32Glu) 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 0.23 / 1. The record also includes population frequency data and structural context.
D32E (p.Asp32Glu) variant details
- p.Asp32Glu
- 1000Genomes rs151333205
- ESP rs151333205
- TOPMed rs151333205
- gnomAD rs151333205
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.26
- CADD 7.04
- PolyPhen-2 0.00
- SIFT 0.76
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available