R6S (p.Arg6Ser) variant of SDHD (O14521)
R6S (p.Arg6Ser) 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; Cowde. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
R6S (p.Arg6Ser) variant details
- p.Arg6Ser
- rs200895313
- ClinGen CA382616664
- ClinVar RCV002534431
- ClinVar RCV003999764
- Uncertain significance
- Carney-Stratakis syndrome; Paragangliomas with sensorineural hearing loss; Cowde
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- AlphaMissense 0.31
- MetaLR 0.75
- MetaSVM 0.23
- PolyPhen-2 0.68
- SIFT 0.00
- MutPred 0.67
- ClinVar: Uncertain significance (Carney-Stratakis syndrome; Paragangliomas with sensorineural hea)
- EBI: Likely benign
- UniProt: Likely benign
- 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)