I127L (p.Ile127Leu) variant of SDHB (P21912)
I127L (p.Ile127Leu) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
I127L (p.Ile127Leu) variant details
- p.Ile127Leu
- rs201372280
- ClinGen CA16609924
- ClinVar RCV000457681
- ClinVar RCV000570298
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.72
- CADD 24.50
- PolyPhen-2 0.35
- SIFT 0.01
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocyto)
- EBI: Variant of uncertain significance (in PPGL4)
- UniProt: Uncertain significance (in PPGL4)
- Population evidence available
- 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)