A9G (p.Ala9Gly) variant of FH (P07954)
A9G (p.Ala9Gly) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Fumarase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A9G (p.Ala9Gly) variant details
- p.Ala9Gly
- rs766915154
- ClinGen CA40338096
- ClinVar RCV000562796
- ClinVar RCV000635299
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Fumarase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.55
- CADD 21.90
- PolyPhen-2 0.04
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Fumarase deficiency; no)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Fumarate Hydratase Deficiency. (PMID 20301679)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)