V9L (p.Val9Leu) variant of SDHC (Q99643)
V9L (p.Val9Leu) 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 0.45 / 1. The record also includes published literature and structural context.
V9L (p.Val9Leu) variant details
- p.Val9Leu
- rs774768866
- ClinGen CA343359286
- ClinVar RCV004508383
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- AlphaMissense 0.09
- MetaLR 0.53
- MetaSVM -0.40
- PolyPhen-2 0.01
- SIFT 0.17
- MutPred 0.32
- 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)