G96R (p.Gly96Arg) variant of SLC25A20 (O43772)
G96R (p.Gly96Arg) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
G96R (p.Gly96Arg) variant details
- p.Gly96Arg
- TOPMed rs1284938291
- gnomAD rs1284938291
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.78
- MetaLR 0.67
- MetaSVM 0.28
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available