A43P (p.Ala43Pro) variant of SDHB (P21912)
A43P (p.Ala43Pro) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal st. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
A43P (p.Ala43Pro) variant details
- p.Ala43Pro
- rs2078100395
- ClinGen CA338228149
- ClinVar RCV002376483
- ClinVar RCV003094846
- Likely pathogenic
- Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal st
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- AlphaMissense 0.08
- MetaLR 0.75
- MetaSVM 0.32
- PolyPhen-2 0.00
- SIFT 0.38
- EVE 0.05
- ClinVar: Likely pathogenic (Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gas)
- EBI: Pathogenic (in PPGL4)
- UniProt: Pathogenic (in PPGL4)
- Structural context available
- Cited in: Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. (PMID 14500403)
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)