G47D (p.Gly47Asp) variant of SDHC (Q99643)
G47D (p.Gly47Asp) in SDHC (Q99643) 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 0.43 / 1. The record also includes published literature and structural context.
G47D (p.Gly47Asp) variant details
- p.Gly47Asp
- rs1571851599
- ClinGen CA343361185
- ClinVar RCV003377760
- NCI-TCGA Cosmic COSV1007
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- AlphaMissense 0.10
- MetaLR 0.53
- MetaSVM -0.50
- PolyPhen-2 0.24
- SIFT 0.04
- EVE 0.16
- 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)