S8G (p.Ser8Gly) variant of SDHD (O14521)
S8G (p.Ser8Gly) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Paragangliomas with sensorineural hearing loss; Pheochromocytoma; Cowden syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S8G (p.Ser8Gly) variant details
- p.Ser8Gly
- rs1865619629
- ClinGen CA382616673
- ClinVar RCV002240503
- ClinVar RCV004030500
- Uncertain significance
- Paragangliomas with sensorineural hearing loss; Pheochromocytoma; Cowden syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.56
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (Paragangliomas with sensorineural hearing loss; Pheochromocytoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)