E83D (p.Glu83Asp) variant of MMUT (P22033)
E83D (p.Glu83Asp) in MMUT (P22033) is a missense change. 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.
E83D (p.Glu83Asp) variant details
- p.Glu83Asp
- TOPMed rs1767772916
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.33
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available