C22F (p.Cys22Phe) variant of SDHB (P21912)
C22F (p.Cys22Phe) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
C22F (p.Cys22Phe) variant details
- p.Cys22Phe
- rs141230910
- ClinGen CA18612401
- ClinVar RCV000541393
- ClinVar RCV001101394
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.38
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocyto)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 6e-05)
- 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)