G126E (p.Gly126Glu) variant of SLC25A20 (O43772)
G126E (p.Gly126Glu) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G126E (p.Gly126Glu) variant details
- p.Gly126Glu
- gnomAD 3-48879398-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.39
- MetaLR 0.37
- MetaSVM -0.42
- CADD 21.40
- PolyPhen-2 0.14
- SIFT 0.19
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available