G106D (p.Gly106Asp) variant of SDHD (O14521)
G106D (p.Gly106Asp) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural h. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
G106D (p.Gly106Asp) variant details
- p.Gly106Asp
- rs1555187574
- ClinGen CA382618729
- ClinVar RCV001913139
- ClinVar RCV002324301
- Pathogenic/Likely pathogenic
- Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural h
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- AlphaMissense 0.21
- MetaLR 1.00
- MetaSVM 0.87
- SIFT 0.00
- MutPred 0.61
- ClinVar: Pathogenic/Likely pathogenic (Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)