W47* (p.Trp47Ter) variant of SDHB (P21912)
W47* (p.Trp47Ter) in SDHB (P21912) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
W47* (p.Trp47Ter) variant details
- p.Trp47Ter
- gnomAD rs1163621416
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.869
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available