G28V (p.Gly28Val) variant of SDHB (P21912)
G28V (p.Gly28Val) in SDHB (P21912) 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 0.54 / 1. The record also includes published literature and structural context.
G28V (p.Gly28Val) variant details
- p.Gly28Val
- rs2101541615
- ClinGen CA338228395
- ClinVar RCV003377771
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- AlphaMissense 0.07
- MetaLR 0.78
- MetaSVM -0.06
- PolyPhen-2 0.00
- SIFT 0.50
- MutPred 0.31
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)