E66D (p.Glu66Asp) variant of SLC25A20 (O43772)
E66D (p.Glu66Asp) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
E66D (p.Glu66Asp) variant details
- p.Glu66Asp
- TOPMed rs1275508003
- gnomAD rs1275508003
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.60
- MetaLR 0.57
- MetaSVM 0.04
- CADD 33.00
- PolyPhen-2 0.77
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available