C22S (p.Cys22Ser) variant of SDHB (P21912)
C22S (p.Cys22Ser) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
C22S (p.Cys22Ser) variant details
- p.Cys22Ser
- rs141230910
- ClinGen CA089705
- ClinVar RCV000206152
- ClinVar RCV000573095
- Conflicting interpretations
- Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.36
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.83
- ClinVar: Conflicting classifications of pathogenicity (Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocyto)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- 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)