Q47P (p.Gln47Pro) variant of SDHD (O14521)
Q47P (p.Gln47Pro) 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 0.45 / 1. The record also includes published literature and structural context.
Q47P (p.Gln47Pro) variant details
- p.Gln47Pro
- rs899706404
- ClinGen CA382617070
- ClinVar RCV002389453
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- AlphaMissense 0.06
- MetaLR 0.68
- MetaSVM -0.00
- PolyPhen-2 0.02
- SIFT 0.28
- EVE 0.10
- 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)