N43I (p.Asn43Ile) variant of SDHC (Q99643)
N43I (p.Asn43Ile) 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.
N43I (p.Asn43Ile) variant details
- p.Asn43Ile
- rs747349777
- ClinGen CA343361108
- ClinVar RCV002383269
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- AlphaMissense 0.09
- MetaLR 0.55
- MetaSVM -0.60
- PolyPhen-2 0.00
- SIFT 0.36
- EVE 0.11
- 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)