G47E (p.Gly47Glu) variant of SLC25A20 (O43772)
G47E (p.Gly47Glu) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G47E (p.Gly47Glu) variant details
- p.Gly47Glu
- cosmic curated COSV10610
- ExAC rs761944287
- gnomAD rs761944287
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.61
- MetaLR 0.63
- MetaSVM 0.35
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.27
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available