S32* (p.Ser32Ter) variant of SDHD (O14521)
S32* (p.Ser32Ter) 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 0.44 / 1. The record also includes published literature and structural context.
S32* (p.Ser32Ter) variant details
- p.Ser32Ter
- rs104894305
- ClinGen CA016746
- ClinVar RCV000007310
- ClinVar RCV000505384
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.439
- AlphaMissense 0.12
- MetaLR 0.62
- MetaSVM -0.04
- PolyPhen-2 0.00
- SIFT 0.21
- EVE 0.14
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. (PMID 11343322)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)