G54W (p.Gly54Trp) variant of SLC25A20 (O43772)
G54W (p.Gly54Trp) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G54W (p.Gly54Trp) variant details
- p.Gly54Trp
- rs1035610382
- ClinGen CA73998478
- ClinVar RCV001806959
- TOPMed rs1035610382
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.90
- MetaLR 0.83
- MetaSVM 0.96
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available