G32S (p.Gly32Ser) variant of SDHA (P31040)
G32S (p.Gly32Ser) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
G32S (p.Gly32Ser) variant details
- p.Gly32Ser
- rs1734831542
- ClinGen CA359008119
- ClinVar RCV003278330
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- AlphaMissense 0.18
- MetaLR 0.13
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.43
- MutPred 0.65
- ClinVar: Likely benign (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)