D60E (p.Asp60Glu) variant of TGM1 (P22735)
D60E (p.Asp60Glu) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D60E (p.Asp60Glu) variant details
- p.Asp60Glu
- ExAC rs760445319
- TOPMed rs760445319
- gnomAD rs760445319
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.30
- CADD 24.00
- PolyPhen-2 0.95
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available