R10C (p.Arg10Cys) variant of SLC37A4 (O43826)
R10C (p.Arg10Cys) in SLC37A4 (O43826) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R10C (p.Arg10Cys) variant details
- p.Arg10Cys
- 1000Genomes rs546577012
- ExAC rs546577012
- TOPMed rs546577012
- gnomAD rs546577012
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- AlphaMissense 0.07
- MetaLR 0.24
- MetaSVM -0.82
- CADD 25.50
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available