R17* (p.Arg17Ter) variant of SDHD (O14521)
R17* (p.Arg17Ter) in SDHD (O14521) 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 0.47 / 1. The record also includes published literature and structural context.
R17* (p.Arg17Ter) variant details
- p.Arg17Ter
- rs1314133983
- ClinGen CA382616759
- ClinVar RCV002334687
- ClinVar RCV002540717
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.475
- AlphaMissense 0.08
- MetaLR 0.67
- MetaSVM -0.04
- PolyPhen-2 0.00
- SIFT 0.07
- MutPred 0.64
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)