E21A (p.Glu21Ala) variant of MMUT (P22033)
E21A (p.Glu21Ala) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E21A (p.Glu21Ala) variant details
- p.Glu21Ala
- 1000Genomes rs577356836
- ExAC rs577356836
- gnomAD rs577356836
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.31
- CADD 2.15
- PolyPhen-2 0.00
- SIFT 0.72
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available