V140F (p.Val140Phe) variant of SDHB (P21912)
V140F (p.Val140Phe) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Pheochromocytoma/para. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
V140F (p.Val140Phe) variant details
- p.Val140Phe
- rs267607032
- ClinGen CA015853
- ClinVar RCV000013634
- ClinVar RCV000132167
- Pathogenic/Likely pathogenic
- Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Pheochromocytoma/para
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.86
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 1.02
- CADD 25.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Pheoc)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery. (PMID 20503330)
- Cited in: Neuroblastoma, pheochromocytoma, and renal cell carcinoma. Occurrence in a single patient. (PMID 490809)