R17Q (p.Arg17Gln) variant of SDHD (O14521)
R17Q (p.Arg17Gln) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R17Q (p.Arg17Gln) variant details
- p.Arg17Gln
- rs1865621723
- ClinGen CA382616761
- ClinVar RCV002242695
- TOPMed rs1865621723
- Uncertain significance
- Carney-Stratakis syndrome; Paragangliomas with sensorineural hearing loss; Pheoc
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.52
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Carney-Stratakis syndrome; Paragangliomas with sensorineural hea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)