G16C (p.Gly16Cys) variant of SDHD (O14521)
G16C (p.Gly16Cys) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Pheochromocytoma; Carney-Stratakis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G16C (p.Gly16Cys) variant details
- p.Gly16Cys
- rs1555186687
- ClinGen CA382616751
- ClinVar RCV001853704
- ClinVar RCV003139772
- Uncertain significance
- not provided; Pheochromocytoma; Carney-Stratakis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.61
- CADD 23.90
- PolyPhen-2 0.32
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; Pheochromocytoma; Carney-Stratakis syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)