G106V (p.Gly106Val) variant of SDHD (O14521)
G106V (p.Gly106Val) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Paragangliomas with sensorineural hearing loss; Carney-Stratakis syndrome; Cowde. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
G106V (p.Gly106Val) variant details
- p.Gly106Val
- rs1555187574
- ClinGen CA382618730
- ClinVar RCV000561906
- ClinVar RCV000660262
- Pathogenic/Likely pathogenic
- Paragangliomas with sensorineural hearing loss; Carney-Stratakis syndrome; Cowde
- 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 (Paragangliomas with sensorineural hearing loss; Carney-Stratakis)
- 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)