G17A (p.Gly17Ala) variant of SLC25A20 (O43772)
G17A (p.Gly17Ala) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G17A (p.Gly17Ala) variant details
- p.Gly17Ala
- 1000Genomes rs550225133
- ExAC rs550225133
- gnomAD rs550225133
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.87
- MetaLR 0.87
- MetaSVM 0.94
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available