R73Q (p.Arg73Gln) variant of SLC25A20 (O43772)
R73Q (p.Arg73Gln) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R73Q (p.Arg73Gln) variant details
- p.Arg73Gln
- TOPMed rs1476582775
- gnomAD rs1476582775
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.57
- MetaLR 0.53
- MetaSVM 0.04
- CADD 24.80
- PolyPhen-2 0.57
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available