G45R (p.Gly45Arg) variant of SDHD (O14521)
G45R (p.Gly45Arg) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G45R (p.Gly45Arg) variant details
- p.Gly45Arg
- rs2135267356
- ClinGen CA382617056
- ClinVar RCV002387681
- Ensembl rs2135267356
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.50
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)