R19* (p.Arg19Ter) variant of SLC2A4 (P14672)
R19* (p.Arg19Ter) in SLC2A4 (P14672) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R19* (p.Arg19Ter) variant details
- p.Arg19Ter
- cosmic curated COSV10874
- 1000Genomes rs139011011
- ESP rs139011011
- ExAC rs139011011
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 35.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available