R73W (p.Arg73Trp) variant of SLC25A20 (O43772)
R73W (p.Arg73Trp) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, 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 0.67 / 1. The record also includes population frequency data and structural context.
R73W (p.Arg73Trp) variant details
- p.Arg73Trp
- rs376860154
- 1000Genomes rs376860154
- ESP rs376860154
- ExAC rs376860154
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.70
- MetaLR 0.78
- MetaSVM 0.72
- CADD 26.90
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.01)
- Structural context available