V46E (p.Val46Glu) variant of SDHD (O14521)
V46E (p.Val46Glu) 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 0.40 / 1. The record also includes published literature and structural context.
V46E (p.Val46Glu) variant details
- p.Val46Glu
- rs2135267375
- ClinGen CA382617064
- ClinVar RCV002381139
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- AlphaMissense 0.08
- MetaLR 0.56
- MetaSVM -0.29
- PolyPhen-2 0.00
- SIFT 0.14
- EVE 0.06
- 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)