Q112R (p.Gln112Arg) variant of SLC25A20 (O43772)
Q112R (p.Gln112Arg) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
Q112R (p.Gln112Arg) variant details
- p.Gln112Arg
- ExAC rs201608596
- TOPMed rs201608596
- gnomAD rs201608596
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.69
- MetaLR 0.43
- MetaSVM -0.23
- CADD 23.80
- PolyPhen-2 0.17
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available