H17R (p.His17Arg) variant of SDHC (Q99643)
H17R (p.His17Arg) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
H17R (p.His17Arg) variant details
- p.His17Arg
- rs1571843720
- ClinGen CA343359467
- ClinVar RCV004508389
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.41
- AlphaMissense 0.11
- MetaLR 0.75
- MetaSVM 0.33
- CADD 13.00
- PolyPhen-2 0.18
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)