Q36* (p.Gln36Ter) variant of SDHD (O14521)
Q36* (p.Gln36Ter) 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 0.49 / 1. The record also includes published literature and structural context.
Q36* (p.Gln36Ter) variant details
- p.Gln36Ter
- rs104894303
- ClinGen CA016759
- ClinVar RCV000007295
- ClinVar RCV000492417
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.488
- AlphaMissense 0.10
- MetaLR 0.66
- MetaSVM 0.18
- PolyPhen-2 0.31
- SIFT 0.50
- EVE 0.19
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. (PMID 10657297)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)