R6G (p.Arg6Gly) variant of SDHD (O14521)
R6G (p.Arg6Gly) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carney-Stratakis syndrome; Paragangliomas with sensorineural hearing loss; Pheoc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- rs11547889
- ClinGen CA070757
- ClinVar RCV002533530
- ExAC rs11547889
- Uncertain significance
- Carney-Stratakis syndrome; Paragangliomas with sensorineural hearing loss; Pheoc
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- AlphaMissense 0.12
- MetaLR 0.78
- MetaSVM 0.32
- PolyPhen-2 0.68
- SIFT 0.00
- MutPred 0.70
- ClinVar: Uncertain significance (Carney-Stratakis syndrome; Paragangliomas with sensorineural hea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)